http://eurogene.open.ac.uk/content/candidate-gene-strategy-multifactorial-disease-2006 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). allele identity by descent gene association marker sib linkage affected power genotype unaffected variant population candidate gene genetics multifactorial genome frequency geneticist haplotype linkage analysis linkage disequilibrium recessive segregation locus cis configuration dominant allele frequency inherited carrier affected sib-pair case-control sib pair chi-square segregation analysis replication relative risk recessive gene familial penetrance parental intragenic marker variation nuclear family dominant gene population genetics antigen heterozygote molecular genetics LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: F. Clerget-Darpoux end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Bertinoro-Clerget -2006.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/candidate-gene-strategy-multifactorial-diseases-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/multifactorial-diseases-gap-between-association-information-and-understanding-pathogenic-pr-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/there-standardized-strategy-study-multifactorial-diseases http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-general-approaches-associati http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/family-based-tests-inbred-populations http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/masc-2 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-illustrating-processes-and-issues http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/incorporation-covariates-multipoint-model-free-linkage-analysis-binary-traits-how-important- http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006 LOMv1.0 Discipline eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s34 Population-based (Familial aggregation) eurogene eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions http://eurogene.open.ac.uk/content/association-studies-isolated-and-founder-populations-1 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). population association marker allele haplotype allele frequency linkage disequilibrium inbreeding genotype correlation frequency probability affected variation mutation quantitative trait human leucocyte antigen drift pedigree parental polymorphism founder effect trait genetic predisposition isolated gene genome locus population isolate sib chromosome association studies congenital cryptic relatedness variance recombination regression monogenic kilobase sibship single nucleotide polymorphism syndrome transmission disequilibrium test homogeneity identity by descent genetics LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: C. Bourgain end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Founder Pop.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-isolated-and-founder-populations-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-studies-complex-traits-isolated-populations http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-studies-complex-traits-isolated-populations-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-special-issues-association-s http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/family-based-tests-inbred-populations http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/757 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-using-family-based-controls http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/haplotypes-vs-single-marker-linkage-disequilibrium-tests-what-do-we-gain http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/693 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/pedigree-tests-transmission-disequilibrium LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/association-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/699 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f6 drift eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s34 Population-based (Familial aggregation) http://eurogene.open.ac.uk/content/family-based-association-studies-2006 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). association linkage haplotype allele genotype locus marker transmission disequilibrium test linkage disequilibrium candidate gene population affected frequency nuclear family single nucleotide polymorphism power multilocus genotypic relative risk association studies discordant recombination sib relative risk penetrance internal control genetics recombination fraction random mating predisposing mutation admixture mutation multiallelic phenotype test statistics chromosome unaffected dominant parental genotype lod score linkage analysis informative identity by descent heterozygous gray gene family based association family history exon expectation maximization algorithm correlation ascertainment pedigree recombinant stratified population transcription tagging snp sibship sib pair sequence selection segregation replication relative probability regression algorithm LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: H. Bickeböller end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/genepi_en_Bertinoro-famassocstudies_SS06.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/family-based-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/family-based-association-studies-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/family-based-association-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-%0Bbetween-markers-and-disease-complete-version http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-epidemiology-11-family-based-and-case-control-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-c-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-%0Bbetween-markers-and-disease-simplified-version http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/699 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-analysis http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-general-approaches-associati LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/association-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/699 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s34 Population-based (Familial aggregation) http://eurogene.open.ac.uk/content/association-studies-quantitative-traits-2006 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). quantitative trait haplotype regression power trait marker variance gene association population phenotype single nucleotide polymorphism allele frequency locus heritability genotype qualitative frequency genotyping variable number tandem repeats additive deoxyribonucleic acid genome informative microsatellite quantitative affected parental untranslated region variant twin studies allele association studies base pair candidate gene correlation covariance discordant family based association genetics haplotype analysis linkage parental genotype probability screening sib transmission disequilibrium test LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: J. Knight end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Knight_QA_Italy.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-quantitative-traits-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/693 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/quantitative-traits-analysis http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/757 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-using-family-based-controls http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-quantitative-traits-2006-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/combined-analysis-genomewide-scans-adult-height-results-nhlbi-family-blood-pressure-program http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-general-approaches-associati http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/linkage-analysis-quantitative-traits-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/699 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/quantitative-traits-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/693 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/association-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/699 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). single nucleotide polymorphism association population mutation genotype frequency association studies gene power allele linkage disequilibrium haplotype phenotype chromosome marker genotyping allele frequency y-chromosome homozygous case-control linkage false positive result family history candidate gene penetrance heterozygous microsatellite false negative result environmental factor complex disease chi-square transmission disequilibrium test variant carrier dominant locus heterogeneity genome genetic predisposition recessive relative risk prevalence ascertainment test statistics variation wildtype tagging snp sib cohort correlation genetics genome wide association additive haplotype analysis intron molecular genetics multiple testing mutant physical map predisposing mutation probability recombination selection LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: C. Lewis end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/lewis_03may06a.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/case-control-association-studies-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/case-control-association-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-special-issues-association-s http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/694 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genomewide-association-studies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-analysis http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/699 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-c-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genomewide-association-studies-2006-0 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) s48 Major-gene (Family-based) http://eurogene.open.ac.uk/content/multilocus-association-analysis en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). locus genotype regression haplotype allele phase affected association epistasis power selection linkage dominance haplotype analysis transmission disequilibrium test probability posterior probability algorithm expectation maximization algorithm additive multilocus marker linkage disequilibrium genotyping genome genetics genetic marker gene dominant correlation chromosome bioinformatics multiple testing parental genotype phase known variant unaffected threshold single nucleotide polymorphism population association studies LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: H.J. Cordell end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/pdf http://eurogene.open.ac.uk/fileupload/multilocus.pdf LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-illustrating-processes-and-issues http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-based-association-studies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/693 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/694 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-quantitative-traits-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/les-%C3%A9tudes-dassociation http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-based-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-quantitative-traits-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/test-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/comparison-family-based-haplotype-methods-using-intragenic-snps-candidate-genes LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/association-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/694 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/699 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene http://eurogene.open.ac.uk/content/population-based-association-studies-2006 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). linkage disequilibrium allele marker association locus genotype haplotype population case-control gene association studies mutation allele frequency polymorphism regression selection affected transmission disequilibrium test homogeneity power frequency candidate gene multifactorial heterozygous haplotype analysis unaffected genetic marker phase trait multivariate segregation quantitative trait univariate algorithm carrier correlation heterogeneity phenotype genome genetics expectation maximization algorithm familial relative risk LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: egf end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/PopBasedAssociation.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-based-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-using-family-based-controls http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/757 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-analytical-issues http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/694 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-%0Bbetween-markers-and-disease-complete-version http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/multilocus-association-analysis http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/test-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/study-candidate-genes-cardiovascular-diseases http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/les-%C3%A9tudes-dassociation LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/association-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/694 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/699 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene http://eurogene.open.ac.uk/content/genomewide-association-studies-2006 en This resource contains materials from an advanced course in the field of statistical genetics. It covers a large spectrum of themes from basic statistics/genetics, with lectures dedicated to population genetics and genetic epidemiology, to the most recent advancements in association studies and linkage analysis. It is especially focused on analysis methods of complex traits (genome wide association studies, gene-gene and gene-environment interactions, quantitative traits linkage and association studies). single nucleotide polymorphism haplotype linkage disequilibrium population genome marker genotyping association studies kilobase association power variation variant selection gene frequency recombination genome wide association multiple testing mutation allele linkage replication relative risk bioinformatics allele frequency haplotype block risk estimates probability prevalence polymorphism phenotype minor allele frequency locus informative hapmap project genetics false positive result correlation complex disease common disease cohort tagging snp case-control LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: C. Fischer end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2008-08-01 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Cfischer-slides-20063004.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genomewide-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-and-hapmap http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-illustrating-processes-and-issues http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-and-hapmap-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/case-control-association-studies-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/case-control-association-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/694 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/association-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/694 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/699 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene http://eurogene.open.ac.uk/content/prenatal-testing-role-health-professionals en Professionals offering or discussing prenatal testing for genetic conditions require both technical knoweldge and the ability to support the couple as they make the decision about testing. This presentation covers issues and information about prenatal testing and practical information for health professionals. mutation fetus gene conception prenatal diagnosis prenatal screening chromosome deoxyribonucleic acid familial genetic counselling population ultrasound affected LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: hskirton end:vcard LOMv1.0 Content Provider begin:vcard fn: Heather Skirton end:vcard 2008-08-06 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Prenatal testing - role of health professionals.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/30abstractabstracts2662pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/127abstractabstracts2441pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/managing-genetic-databases-2009 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/newborn-screening-czech-republic-preliminary-results-pilot-study http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/203abstractabstracts2536pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/138abstractabstracts2453pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/prenatal-testing-huntington%E2%80%99s-disease-european-collaborative-study http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-screening-and-testing-children-2003 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/157abstractabstracts2476pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/226abstractabstracts2562pdf LOMv1.0 Discipline eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl33 Facilitating decision making eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl33 Facilitating decision making cl331 Reproductive choices eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl32 Patient education / explanation eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl32 Patient education / explanation cl321 Communication skills http://eurogene.open.ac.uk/content/grief-and-loss-related-genetic-condition-family en This resource describes some of the ways in which genetic conditions cause grief and loss in an affected family. It also draws attention to the grief associated with both positive and negative genetic test results. affected genetic condition predictive testing mutation disruption LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: hskirton end:vcard LOMv1.0 Content Provider begin:vcard fn: Heather Skirton end:vcard 2008-08-06 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Grief and loss related to a genetic condition on the family.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/135abstractabstracts2450pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genotypes-and-phenotypes-2009-0 LOMv1.0 Discipline eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support cl342 Dealing with loss http://eurogene.open.ac.uk/content/use-core-competences-genetics-health-professionals en This resource argues for the use of core competences for setting minimum standards of paractice in genetics for health professionals in all areas of health care. genetics genomics LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: hskirton end:vcard LOMv1.0 Content Provider begin:vcard fn: Heather Skirton end:vcard 2008-08-06 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Core competences in genetics for health professionals.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/systems-biology-approaches-drug-discovery-and-gene-function-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/high-throughput-screening-identification-new-drugs-cystic-fibrosis-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-aspects-autosomal-dominan-forms-charcot-marie-tooth-diseases-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/klinick%C3%A1-genetika-5-ro%C4%8Dn%C3%ADk-syndromy-chromozom%C3%A1ln%C3%AD-instability http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/dissecting-oncogenic-signalling-pathways-mutational-profiling-gene-families-2005-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/limb-malformation-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/march-dimes-key-note-lecture-medical-genetics-genetic-medicine-last-50-years-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/methods-multilocus-analysis-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mouse-models-animal-models-genetic-risk-non-familial-sporadic-cancer-and-definition-cancer-s http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/neuromuscolar-disorders-tripplet-repeat-disorders LOMv1.0 Discipline eurogene c0 Clinical/medical genetics http://eurogene.open.ac.uk/content/thalassochip-diagnostic-tool-%CE%B2-thalassaemia en This presentation introduces the use of microarrays as a diagnostic tool for ?-thalassaemia genetics mutation gene microarray probe polymerase chain reaction expression genotyping oligonucleotide exon mutant dna polymerase Analysis of the entire coding region: Sequence analysis nucleotide polymorphism target dna base quantitative single nucleotide polymorphism syndrome terminator variant annealing protein primer population carrier Complementary DNA congenital cystic fibrosis transmembrane conductance regulator dna chip gene chip gene product hereditary heterozygous high throughput homozygous locus messenger rna molecular genetics allele LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Liza end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2008-09-12 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/THALASSOCHIP.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/prenatal-diagnosis-new-approaches-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-diagnosis-thalassaemia-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/determination-frequencies-ten-allelic-variants-wilson-disease-gene-atp7b-pooled-dna-samples http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/335abstractabstracts2693pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/familial-defective-apolipoprotein-b-100-group-hypercholesterolaemic-patients-poland-identifi http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/analysis-genotypes-and-phenotypes-37-unrelated-patients-inherited-factor-vii-deficiency http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-genetic-basis-and-prevalence-glycogen-storage-disease-type-iiia-faroe-islands LOMv1.0 Discipline http://eurogene.open.ac.uk/content/recreational-genomics-dreams-and-fears-genetic-susceptibility-screening en Editorial European Journal of Human Genetics (2008)16, 403-404 genetics screening genome clinical genetics population association geneticist genetic screening reproductive process genome scan sensitivity community genetics complex disease heritability false-negative false-positive LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Gertjan van Ommen end:vcard LOMv1.0 Author begin:vcard fn: Martina Cornel end:vcard LOMv1.0 Content Provider begin:vcard fn: Petra GM van Overveld, PhD end:vcard 2008-09-15 application/pdf http://eurogene.open.ac.uk/fileupload/Van Ommen - EJHG16(2008)403.pdf LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-citizenship-2004 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetics-community LOMv1.0 Discipline eurogene c0 Clinical/medical genetics eurogene m1 Molecular genetics http://eurogene.open.ac.uk/content/molecular-diagnosis-thalassaemia en This presentation lists some of the most common Thalassaemia mutations, and also summarizes the main techniques used for molecular diagnosis of Thalassaemia mutation primer denaturing gradient gel electrophoresis polymerase chain reaction codon Analysis of the entire coding region: Sequence analysis restriction enzyme mutant allele synthesis population carrier gene abnormal frequency chromosome ribonucleic acid biosynthesis genetics hereditary persistence of fetal hb hereditary genotype fetus expression exon embryo electrophoresis cryptic splice site consensus sequence heterozygous homozygous frameshift internal control substitution Southern blot processing prenatal diagnosis phenotype nonsense mutation molecular genetics messenger rna chorionic villus sampling LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Marina Kleanthous end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2008-10-09 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Molecular Diagnosis of Thalassaemia.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-diagnosis-thalassemia-2004 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/screening-and-diagnosis-haemoglobin-disorders-2004 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-screening-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-screening-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/recent-advances-beta-thalassemia-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/analysis-genotypes-and-phenotypes-37-unrelated-patients-inherited-factor-vii-deficiency http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-genetic-analysis-atp7b-gene-russian-patients-wilson-disease http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/organization-mevalonate-kinase-mvk-gene-and-identification-novel-mutations-causing-mevalonic http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/functional-characterization-novel-mutations-human-cytochrome-b-gene LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c40 Family history/pedigree eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques m16 PCR eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques m15 Sequencing eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease http://eurogene.open.ac.uk/content/non-invasive-prenatal-diagnosis-beta-thalassaemia en This presentation describes the approach of analysis and detection of SNPs and mutations for non-invasive prenatal diagnosis, and the improvement of specificity of the technique single nucleotide polymorphism mutation allele deoxyribonucleic acid informative selection specificity maternal genetics polymerase chain reaction gene prenatal diagnosis trait heterozygote Analysis of the entire coding region: Sequence analysis isolated haplotype analysis genomic dna genotype haplotype beta heterozygous sensitivity population peptide microarray homozygous LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Thessalia Papasavva end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2008-10-09 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Non Invasive prenatal Diagnosis of beta-thalassaemia.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-counseling-non-invasive-prenatal-diagnosis http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/24abstractabstracts2592pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/prenatal-diagnosis-new-approaches-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/analysis-haplotypes-associated-ivsi-nt-130-beta-globin-gene-reveals-intriguing-results http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/implementation-nipd-using-paternal-dna-markers-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/22abstractabstracts2566pdf LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/ LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/genetic-counseling-non-invasive-prenatal-diagnosis LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) eurogene m1 Molecular genetics m4 Techniques m86 Array based/high throughput technologies eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease http://eurogene.open.ac.uk/content/silico-drug-screening-grid en This presentation introduces a new approach to drug screening of HbF inducers for the treatment of ?-thalassaemia, combining areas of in vitro screening in cell cultures, and in silico screening with the use of Molecular Dynamics. screening cell in vitro selection expression fluorescent activated cell sorting gene expression hormone in vivo inducer quantitative reverse transriptase pcr survival LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Christos Shammas end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2008-10-10 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/In silico Drug Screening on Grid.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene m1 Molecular genetics m4 Techniques m76 Cell-biological assays http://eurogene.open.ac.uk/content/molecular-diagnosis-thalassaemia-and-prevention-errors-leading-misdiagnosis en A summary of the diagnostic methods for Thalassaemia as well as possible sources of error and ways of minimizing them. primer prenatal diagnosis chorionic villus sampling mutation polymorphism recombination haplotype analysis denaturing gradient gel electrophoresis gene restriction fragment length polymorphism adoption Analysis of the entire coding region: Sequence analysis carrier screening genetics heterozygous homozygous maternal internal control LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Marina Kleanthous end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2008-10-10 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Workshop1.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/thalassaemia-prenatal-diagnosis-new-approaches-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/32abstractabstracts2687pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/24abstractabstracts2592pdf LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) http://eurogene.open.ac.uk/content/alleles-populations en This is the fourth lecture in the module (Basic Genetics), which provides a foundation in basic genetics as an introduction to the masters program in Genetic Epidemiology. frequency allele population linkage disequilibrium locus recombination genotype gene marker association haplotype gene pool chromosome assortative mating expansion gamete genetic mapping genotyping error homozygous inbreeding polymorphism random mating selection variant linkage LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Angie Cox end:vcard LOMv1.0 Content Provider begin:vcard fn: Mohammed-Elfatih Twfieg end:vcard 2008-10-20 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/allelesinpops copy.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/nature-or-nurture-part-how-are-genes-transmitted-families-and-why-do-they-cluster-families http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-population-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/introduction-association-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-genetics-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/robust-test-assortative-mating http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-population-genetics-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/identification-human-disease-genes-association-and-linkage-studies-stroke-and-vci http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-epidemiology-12-case-control-studies-haplotypes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/various-uses-dna-variations LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/basic-genetics-0 LOMv1.0 Discipline eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f7 Selection fitness http://eurogene.open.ac.uk/content/basic-genetics-module-course-work en This file contains questions that provide examples/practice supporting the lectures in the Basic Genetics module, which provided a foundation in basic genetics as an introduction to the masters program in Genetic Epidemiology, at the University of Sheffield. The questions include referencing to Strachan and Read snd edition. phenotype gene molecular genetics affected frequency base allele homozygous genetic marker linkage mutation recombination carrier affected sib-pair marker recombination fraction recessive gene dominant interference genetic code deoxyribonucleic acid cell division sequence protein population locus peptide genotype hotspot isolate inherited genetics dominant allele informativeness inheritance Complementary DNA clone dna replication autosomal recessive probability recessive polymorphism meiosis mendelian inheritance mitosis pedigree physical distance dna structure linkage mapping copy number polymorphism translation transcription replication semi-conservative syndrome LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Angela Cox end:vcard LOMv1.0 Content Provider begin:vcard fn: Mohammed-Elfatih Twfieg end:vcard 2008-10-20 application/msword http://eurogene.open.ac.uk/fileupload/coursework questions2008.doc LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-genetics-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basics-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-linkage-analysis-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-gene-function http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/human-genetic-mapping-anonymous-markers http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-population-genetics-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/recombinational-linkage-and-mapping http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-population-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/introduction-parametric-linkage-analysis LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/basic-genetics-0 LOMv1.0 Discipline eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s44 Linkage (Genome-wide) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s42 Linkage (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene m1 Molecular genetics eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s28 Formal genetics f2 Mendelian laws http://eurogene.open.ac.uk/content/detecting-lessions-genes en A lecture in human genetics, which is taught as part of the MSc in genetic epidemiology. gene mutation exon sequence base pair Analysis of the entire coding region: Sequence analysis mutant protein recessive single nucleotide polymorphism candidate gene deoxyribonucleic acid polymerase chain reaction genome polymorphism genetic disease coding mutation trait oligonucleotide promoter enhancer expression deletion base adenomatous polyposis coli nucleotide metabolism locus linkage insertion inherited inheritance hybrid genomic dna genetic screening gene expression dominant open reading frame population heteroduplex heterozygote pathogenic mutation variation transgenic mouse syndrome splicing single stranded conformational polymorphism screening ribonucleic acid recombinant protein truncation test dna sequencing LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Martin Nicklin end:vcard LOMv1.0 Content Provider begin:vcard fn: Mohammed-Elfatih Twfieg end:vcard 2008-12-10 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/LT10MN08MN.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/human-genetic-mapping-anonymous-markers http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-gene-function http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/spell-checking-our-genes-report-symposium-mutation-detection-large-genes-14-may-1999-vicofor http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/atb0slc1a5-gene-fine-localisation-and-exclusion-association-intestinal-phenotype-cystic-fibr http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/absence-homozygosity-predominant-mutations-pmm2-danish-patients-carbohydrate-de%EF%AC%81cient-glycop http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/determination-frequencies-ten-allelic-variants-wilson-disease-gene-atp7b-pooled-dna-samples http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/novel-six-nucleotide-deletion-hepatic-fructose-16-bisphosphate-aldolase-gene-patient-heredit http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/simple-two-color-array-based-approach-mutation-detection http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/pathogenic-mutations-and-rare-variants-apc-gene-identi%EF%AC%81ed-75-belgian-patients-familial-adeno http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/homologous-nonallelic-recombinations-between-iduronate-sulfatase-gene-and-pseudogene-cause-v LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/basic-human-genetics LOMv1.0 Discipline eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques eurogene m1 Molecular genetics http://eurogene.open.ac.uk/content/%CE%B4-thalassaemia-cyprus en To help clarify the haematological picture of patients who may be positive for β- and δ-globin gene mutations, the following study was carried out aiming to identify the δ-globin gene mutations found in the Greek Cypriot population, their frequencies and the HbA2 values associated with them. 74 samples were selected from a random sample of 5030 individuals and the database of the Molecular Genetics Thalassaemia Department containing diagnostic analyses data was also mined for relevant information. Four novel for Cyprus δ-globin gene mutations (-30, HbA2-Wrens, IVS-I-2, HbA2-Yohoshima) were identified, bringing the total of δ-globin alleles in the Greek Cypriot population to eleven: HbA2-Yialousa, HbA2-Yokoshima, HbA2-Troodos, HbA2-Pelendri, Codon 4, Codon 59, HbA2-Wrens, IVS-II-897, IVS-I-2, -55, -30. HbA2-Yialousa is the most common mutation with a frequency of 60.71% followed by Codon 4 (frequency 17.8%). HbA2 levels over 1.9% have been found to indicate a significantly reduced possibility for the presence of a δ-globin gene mutation in this population. For HbA2 levels of 1.7% and 1.8% the possibility for a δ-globin gene mutation rises to 90.9% and reaches 100% for lower HbA2 levels. The frequency of all the mutant δ-globin chromosomes in the sample is 0.0067 and the carrier frequency is 1.26%. mutation gene population frequency carrier codon mutant allele Analysis of the entire coding region: Sequence analysis chromosome genotype heterozygous deoxyribonucleic acid screening exon phase homozygous affected sib-pair variant heterozygote primer prevalence helix haem genomic dna genetics expression dna sequencing compound heterozygote cohort cis configuration carrier screening biological chemistry Analysis of the entire coding region: Mutation scanning alpha allelic heterogeneity allele frequency homozygote incidence terminator substitution sequence random mating promoter region population screening polymerase chain reaction phenotype molecular genetics abnormal LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Pavlou Eleni end:vcard LOMv1.0 Author begin:vcard fn: Phylactides Marios end:vcard LOMv1.0 Author begin:vcard fn: Kyrri Androulla end:vcard LOMv1.0 Author begin:vcard fn: Kalogerou Eleni end:vcard LOMv1.0 Author begin:vcard fn: Makariou Christiana end:vcard LOMv1.0 Author begin:vcard fn: Kleanthous Marina end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2009-01-13 application/msword http://eurogene.open.ac.uk/fileupload/d-globin_308.doc LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/analysis-genotypes-and-phenotypes-37-unrelated-patients-inherited-factor-vii-deficiency http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/n219y-new-frequent-mutation-among-mut8-forms-methylmalonic-acidemia-caucasian-patients http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/preliminary-results-neonatal-screening-program-wilson-disease-greece-and-reporting-novel-var http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/22abstractabstracts2566pdf LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques m15 Sequencing eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics http://eurogene.open.ac.uk/content/thalassochip en This presentation describes the use of APEX technology as a dignostic tool in the field of thalassaemia genetics mutation gene microarray probe polymerase chain reaction expression genotyping oligonucleotide exon mutant dna polymerase Analysis of the entire coding region: Sequence analysis nucleotide polymorphism target dna base quantitative single nucleotide polymorphism syndrome terminator variant annealing protein primer population carrier Complementary DNA congenital cystic fibrosis transmembrane conductance regulator dna chip gene chip gene product hereditary heterozygous high throughput homozygous locus messenger rna molecular genetics allele LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Thessalia Papasavva end:vcard LOMv1.0 Author begin:vcard fn: Xenia Feleki end:vcard LOMv1.0 Content Provider begin:vcard fn: Elizabeth-Maria Kokkinos end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/THALASSOCHIP_309.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/prenatal-diagnosis-new-approaches-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-diagnosis-thalassaemia-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/determination-frequencies-ten-allelic-variants-wilson-disease-gene-atp7b-pooled-dna-samples http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/335abstractabstracts2693pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/familial-defective-apolipoprotein-b-100-group-hypercholesterolaemic-patients-poland-identifi http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/analysis-genotypes-and-phenotypes-37-unrelated-patients-inherited-factor-vii-deficiency http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-genetic-basis-and-prevalence-glycogen-storage-disease-type-iiia-faroe-islands LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene m1 Molecular genetics m4 Techniques m74 Molecular techniques eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene m1 Molecular genetics m4 Techniques m86 Array based/high throughput technologies eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease http://eurogene.open.ac.uk/content/comparison-development-specialist-genetic-nursing-united-kingdom-and-japan en In this paper, the history of genetic nursing and the ways in which a set of competences were developed in the UK and Japan are compared. genetics genetic counselling genetic counsellor clinical genetics prenatal diagnosis inherited affected competent predictive testing cancer genetics LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Heather Skirton end:vcard LOMv1.0 Content Provider begin:vcard fn: Heather Skirton end:vcard 2009-01-13 application/pdf http://eurogene.open.ac.uk/fileupload/NHS Japan Uk Nursing final submittted_315.pdf LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/191abstractabstracts2519pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-services-aims-process-and-outcomes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/203abstractabstracts2536pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/prenatal-testing-late-onset-neurogenetic-diseases http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/design-and-implementation-community-based-genetic-counselling-and-education-programmes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/low-penetrance-cancer-genes-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/giving-results-and-breaking-news-genetic-counselling http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/gene-expression-profile-investigation-acquired-muscle-disorders http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/medical-genetics-genomic-medicine-1956-2007-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/counselling-skills-conducting-genetic-counselling-session LOMv1.0 Discipline eurogene c0 Clinical/medical genetics http://eurogene.open.ac.uk/content/genetic-testing-children en Genetic testing in children is a challenging ethical and practical issue in clinical care. This presentation includes material on the relevant issues and guidance for practice. mutation gene carrier affected clinical geneticist expectation maximization algorithm heterogeneous informed consent inherited LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Heather Skirton end:vcard LOMv1.0 Content Provider begin:vcard fn: Heather Skirton end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/N_Genetic Testing of Children_316.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/331abstractabstracts2689pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-testing-cardiomyopathy-minors-practical-issues http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/practical-aspects-consent-confidentiality-and-disclosure-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/men-risk-being-mutation-carrier-hereditary-breastovarian-cancer-exploration-attitudes-and-ps http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/update-molecular-analysis-classical-galactosaemia-spain-and-portugal-eight-new-mutations-sev http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/practical-issues-consent-confidentiality-and-disclosure-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/299abstractabstracts2648pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/100abstractabstracts2411pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/204abstractabstracts2537pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/301abstractabstracts2653pdf LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/genetic-counselling-practice-2006-part2 LOMv1.0 Discipline eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c43 Counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support cl343 Family communication and relationships http://eurogene.open.ac.uk/content/communication-risk-families en The presentation describes the way in which professionals can efectively discuss risks of being affected or being a carrier of a genetic condition with individuals and their families. affected qualitative LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Heather Skirton end:vcard LOMv1.0 Content Provider begin:vcard fn: Heather Skirton end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/N_Communication of risk in families_317.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/supporting-parents-tell-their-children-about-huntington-disease-family LOMv1.0 Discipline eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl31 Risk assessment http://eurogene.open.ac.uk/content/database-chromosome-aberrations-cancer en Immense amounts of data on neoplasia-associated chromosomal aberrations have been collected during the last three decades. At present chromosome abnormalities identified by various banding techniques have been described in more than 50 000 human neoplasms. An increasing number of these aberrations have during recent years also been studied by various molecular cytogenetic techniques, in particular fluorescence in situ hybridization. These new investigative tools have added a further sophistication to the analyses in that previously undetectable abnormalities may be identified and that breakpoints in structural rearrangements may be characterized and delineated quite precisely, even within a specific region of a single gene. A substantial number of the cytogenetic changes have now also been characterized at the molecular genetic level. The most important fact that has emerged from the cytogenetic studies is the realization that every tumor type that has been studied in a sufficient number to permit conclusions may be subdivided on the basis of characteristic, often specific, and sometimes even pathognomonic, rearrangements. An increasing number of the recurrent aberrations, in particular balanced changes, are with remarkable specificity associated with distinctive morphological and/or clinical disease characteristics. Presently, more than 1,000 recurrent balanced chromosomal rearrangements have been reported. The identification of these recurrent aberrations has several important implications. First, cytogenetics has become an increasingly important tool in the clinical management of cancer patients to help establish a correct diagnosis and to predict prognosis. Second, the cytogenetic information has provided invaluable help to identify genes of importance in the carcinogenic process by focusing the attention to chromosomal sites that may harbor genes which when rearranged lead to neoplasia. So far, all balanced structural rearrangements that have been characteri gene chromosome break-point cluster sequence predisposing mutation genome exon probe rearrangement frequency karyotype centromere abnormal locus survival chromosome abnormality reciprocal translocation chromosome painting cytogenetics deletion dysplasia incidence molecular genetics promoter protein LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: F. Mitelman end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Mitelman_clean_333.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/database-chromosome-aberrations-cancer-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/fish-hematological-malignancies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/fish-leukemias-2005-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/fiber-fish-2006-2008 LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c6 Chromosomal disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c22 Trisomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c21 Monosomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c23 Mosaicism eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c24 Translocation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c25 Deletion eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c26 Duplication eurogene m1 Molecular genetics eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m89 CGH eurogene m1 Molecular genetics m2 Studies of chromatin eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome m11 Chromosome rearangement eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction m65 Aneuploidy eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m87 Chromosome banding http://eurogene.open.ac.uk/content/malformation-anorectale-epid%C3%A9miologie fr Anorectal malformation on a clinical view point, centered on syndromes malformation sequence regression association kindred genetic counselling karyotype uniparental disomy ultrasound trisomy teratogen syndrome spindle sex ratio expansion fraternal twins monozygotic twins maternal vertical transmission LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Stanislas Lyonnet end:vcard LOMv1.0 Content Provider begin:vcard fn: Stanislas Lyonnet end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Anorectal malformation_341.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions http://eurogene.open.ac.uk/content/malformation-and-cancer fr General overview of cancer genetics especially orientated towards syndromes with cancer predisposition syndrome gene predisposition trisomy dominant allele protein mosaicism prostate expression association autosomal tumor suppressor gene constitutional mutation recessive sporadic karyotype genetics digestive tract deoxyribonucleic acid de novo uniparental disomy genome penetrance retina wingless signal transduction somatic somatic mosaicism regression proto-oncogene genomic imprinting chromosome duplication expressivity frequency hedgehog hereditary malformation monogenic morphogen mosaic cell cycle LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Stanislas Lyonnet end:vcard LOMv1.0 Content Provider begin:vcard fn: Stanislas Lyonnet end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Malformation and cancer_342.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License LOMv1.0 Discipline eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation http://eurogene.open.ac.uk/content/genetics-underlying-complex-diseases en gene quantitative trait phenotype atherosclerosis sequence population polymorphism exon mutation linkage disequilibrium genetics allele untranslated region variation variant systems biology substitution sib replication relative risk promoter familial relative risk familial deoxyribonucleic acid deletion cohort chromosome case-control association studies frequency haplotype power pedigree mode of inheritance mendelian inheritance linkage analysis inversion intron insertion association affected LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Stephanie end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/pdf http://eurogene.open.ac.uk/fileupload/1Lecture Genetics underlying Complex Diseases__343.pdf LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/overview-mapping-strategies-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/high-resolution-genetic-mapping-ace-linked-qtl-in%EF%AC%82uencing-circulating-ace-activity http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/etiology-complex-diseases http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-variants-predispose-human-diseases http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/identification-human-disease-genes-association-and-linkage-studies-stroke-and-vci http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/strat%C3%A9gies-d%E2%80%99%C3%A9tude-des-maladies-multifactorielles http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-%0Bbetween-markers-and-disease-complete-version http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/angiotensin-converting-enzyme-id-polymorphism-russian-athletes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/measured-haplotype-analysis-aldosterone-synthase-gene-and-heart-size http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-illustrating-processes-and-issues LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s44 Linkage (Genome-wide) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s42 Linkage (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related c37 Genomics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions http://eurogene.open.ac.uk/content/genetics-linkage en recombination gamete chromosome gene locus linkage phenotype parental mutation allele recombinant centimorgan meiosis complete linkage independent assortment genetic map random assortment partial linkage inherited physical map dominant allele F1 generation double recombinant recessive allele heterozygous gene expression homozygous recombination fraction hotspot recessive deoxyribonucleic acid coupling centromere dna sequencing repulsion heterozygote sequence LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Stephanie end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/pdf http://eurogene.open.ac.uk/fileupload/Genetics_Linkage_344.pdf LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/recombinational-linkage-and-mapping http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-linkage-analysis-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/recombination-genetic-mapping http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-population-genetics-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/basic-population-genetics LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s44 Linkage (Genome-wide) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s42 Linkage (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) http://eurogene.open.ac.uk/content/etiology-complex-diseases en gene environmental factor population single nucleotide polymorphism marker heterogeneity mutation pedigree phenotype deoxyribonucleic acid allele variant allelic heterogeneity sequence sib threshold twin studies admixture quantitative trait relative risk prevalence power association studies candidate gene case-control common disease complex disease frequency genetic predisposition genome haplotype analysis inherited linkage analysis linkage disequilibrium mendelian inheritance microsatellite multifactorial LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: Stephanie end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/pdf http://eurogene.open.ac.uk/fileupload/transparencies Genetics underlying Complex Diseases_345.pdf LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetics-underlying-complex-diseases http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/example-linkage-analysis-complex-phenotypes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-and-hapmap http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/understanding-genetic-component-disease http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-and-hapmap-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mapping-susceptibility-genes-complex-disorders-example-autism-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/overview-mapping-strategies-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/overview-genetic-epidemiology LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s44 Linkage (Genome-wide) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s42 Linkage (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related c37 Genomics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics http://eurogene.open.ac.uk/content/risk-prediction-models-familial-cancer-2005 en Several statistical models exist in the literature which estimate the probability of developing cancer or the probability of being a carrier of a high risk susceptibility gene. Such models have several applications such as identifying individuals at high risk of developing cancer, they can be used for clinical decision making or for recruiting individuals in intervention or screening trials. The development of risk prediction models begins by identifying the risk factors that are associated with the particular cancer site. These may include environmental, lifestyle, hormonal and genetic factors. Estimating the relative risks associated with these risk factors is the first important step in the model development. The Gail model of breast cancer susceptibility is presented as an example. The importance of familial factors in the aetiology of cancer is usually quantified in terms of the Familial Relative Risk (FRR). The observed patterns of the FRR’s can offer “clues” as to the underlying genetic models of inheritance. In constructing genetic risk models for familial cancer the aim is to model these observed patterns. Data on cancer occurrence in families can be used to investigate the consistency with Mendelian inheritance and to identify the best fitting genetic models using segregation analysis. The components that define a genetic model are reviewed (allele frequencies, transmission probabilities, penetrance) and illustrated in terms of the Claus model of genetic susceptibility to breast cancer. When susceptibility genes are identified it is important to allow for their effects in risk models, especially if they account for a substantial proportion of the observed familial relative risk. Examples include the BRCA1 and BRCA2 genes in breast cancer, the mismatch repair genes hMSH2 and hMLH1 in colorectal cancer and the CDKN2A gene in melanoma. Prior to the incorporation of such effects into risk models, gene characterisation studies are performed to i BRCA penetrance probability carrier mutation population gene prevalence familial family history allele segregation analysis incidence dominant relative risk affected screening predisposing mutation inheritance proband sensitivity cohort environmental factor mode of inheritance biomarker specificity allele frequency polygenic genetic predisposition genetics genotype case-control frequency familial relative risk autosomal dominant variation recessive regression prostate unaffected chi-square concordance recessive gene cancer genetics segregation ascertainment linkage heterogeneity genotypic relative risk linkage disequilibrium marker mendelian inheritance mismatch repair mechanism mutant negative predictive value polymorphism positive predictive value dominant gene codominant LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: A. Antoniou end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/antoniou_347.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/risk-prediction-models-familial-cancer-2005-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/risk-prediction-models-familial-cancer-2005-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-counseling-cancer-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/combined-segregation-and-linkage-analysis-in%EF%AC%82ammatory-bowel-disease-ibd1-region-using-severi http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/diagnostic-mol%C3%A9culaire-questions-sp%C3%A9cifiques-pos%C3%A9es-par-la-g%C3%A9nomique http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/overview-genetic-epidemiology http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/segregation-analysis-hdl-cholesterol-nhlbi-family-heart-study-and-utah-pedigrees http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/problems-and-pitfalls-association-studies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-genes-environment-study-design http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/bases-de-la-g%C3%A9n%C3%A9tique-%C3%A9pid%C3%A9miologique LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/genetic-counseling-cancer-genetics LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c42 Treatment eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m81 Gene expression eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support cl343 Family communication and relationships eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support cl342 Dealing with loss eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl34 Psychosocial support cl341 Adaption to diagnosis / risk eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease http://eurogene.open.ac.uk/content/dissecting-oncogenic-signalling-pathways-mutational-profiling-gene-families en Phosphorylation is a well-characterized biochemical process for the reversible regulation of protein activity. Protein kinases and protein phosphatases are the key complementary players in this process, and through their coordinated activity cell homeostasis is tightly controlled. If these enzymes are genetically altered and display aberrant activity, cells may undergo unrestrained growth, giving rise to cancer. The availability of the Human Genome sequence has recently allowed the systematic profiling of the genetic alterations present in the kinases and the phosphatases gene families in colorectal and other cancers. These studies show that most if not all colorectal tumors carry genetic alterations in at least one phosphatase or kinase gene. They also indicate that the phosphotidylinositol-3-kinase (PI3K) signaling pathway is a major target for mutational activation in a variety of cancers and provide new potential targets for therapeutic intervention. The mutational profiling of individual cancer genomes is revolutionizing clinical oncology and may lead to the individualized treatment of cancer patients based on the mutated genes present in their tumours. gene mutation domain oncogenic sequence transcript loss of heterozygosity genetics metastasis mutant Analysis of the entire coding region: Sequence analysis oncogene affected nucleotide amino acid splice site pathogenic mutation specificity somatic mutation protein primer polymerase chain reaction insertion high throughput genomics genetic disease frequency enzyme chromosome candidate gene cancer genetics antibody untranslated region adenomatous polyposis coli LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: A. Bardelli end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Bardelli_348.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/dissecting-oncogenic-signalling-pathways-mutational-profiling-gene-families-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mutational-and-functional-analysis-cancer-alleles-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/revised-exon%E2%80%93intron-structure-human-jak3-locus LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c42 Treatment eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m57 Overfunction (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m58 Function in different tissues (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation m51 Gain of function (Dynamic mutation) http://eurogene.open.ac.uk/content/interface-genetics-epidemiology-2005 en This lecture will serve as an overview of how the tools of genetic epidemiology can be used to study cancer, a complex and heterogeneous disease. In identifying genes controlling risk to cancer, a range of hypotheses should be tested and a range of study designs are available to address these questions. These include family based linkage studies to identify genes controlling risk in almost a Mendelian fashion. Recent linkage studies of lung cancer and prostate cancer will be reviewed. Variations on the conventional case-control design can also be used to test for association between genes and complex diseases such as cancer, and the interpretation of this type of study will be discussed. Study designs such as case-only, case-control, case-sib control and case-parent trio will be compared and examples for each will be presented. The limitations and strengths of these different study designs will be contrasted and their strengths and limitations will be discussed. Because of the etiologic heterogeneity of most cancers, multiple scientific approaches and study designs will be needed to fully understand the role of genes controlling risk to cancer. cancer genetics gene linkage allele marker population linkage disequilibrium genotype single nucleotide polymorphism case-control association haplotype heterogeneity prostate gene-environment interaction sib locus genome cell allele frequency power genetics phenotype frequency trait mutation candidate gene lod score transmission disequilibrium test affected familial cohort correlation linkage analysis heterozygote carrier genetic predisposition informative induced abortion screening segregation inheritance regression common disease locus heterogeneity bias of ascertainment probability prevalence allelic heterogeneity segregation analysis proband genetic marker variance environmental factor test statistics BRCA multipoint heterogeneous heritability unaffected qualitative somatic mutation random genetic drift predisposing mutation selection random mating sex limited simplex case quantitative trait replication tumor suppressor gene nuclear family dna structure initiation codon admixture protein positional cloning penetrance gene expression gene-gene interaction gamete founder effect family based association family history drift dominant dna repair discordant diagnostic testing complex disease chromosome chi-square cell cycle apoptosis germline mutation haplotype analysis hereditary pedigree parental nonsense mutation natural selection multiple testing multifactorial meiosis maternal loss of heterozygosity haplotype block inherited incomplete penetrance identity by descent hybrid homozygote histone Analysis of the entire coding region: Sequence analysis LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: T.H. Beaty end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Beaty_349.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/interface-genetics-epidemiology-2005-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-general-approaches-associati http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/699 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-analysis http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-epidemiological-approaches-complex-neurological-disease http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-d-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/linkage-aggressive-prostate-cancer-chromosome-7q31-33-german-prostate-cancer-families http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-and-genome-wide-association-studies LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s44 Linkage (Genome-wide) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s42 Linkage (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) http://eurogene.open.ac.uk/content/genetics-thyroid-cancer en Thyroid cancer is the most common malignancy of the endocrine system. It consists of four different forms of neoplasia: papillary (PTC), follicular (FTC), undifferentiated (anaplastic) (UTC) and medullary thyroid carcinoma (MTC). PTC, FTC and UTC, collectively labeled as Non-Medullary Thyroid Carcinoma (NMTC) derive from thyroid follicular epithelial cells, whereas MTC derives from parafollicular C-cells. Follicular cells originate from the endoderm, whereas C-cells derive from neural crest cells; however, the possibility that a small number of MTCs arise from a common stem cell (possibly the ultimobranchial body) that may give rise to both MTC and PTC has been suggested. MTCs comprise about 5-10% of thyroid malignancies. About 25% of MTCs are hereditary and classified as familial MTC (FMTC), multiple endocrine neoplasia type 2A (MEN2A) or type 2B (MEN2B). MTC is one of the most aggressive thyroid tumor hystotype with a survival rate of 50% at 10 years. Conventional chemotherapy and radiotherapy are not successful and patients die of metastatic progressive disease. MTC and a majority of sporadic PTC are associated with activating mutations in the RET protooncogene. NMTC includes accounts for 80-90% of all thyroid neoplasias. Familial NMTC (fNMTC) represents 3-7% of all thyroid tumors and is associated with some of the highest familial recurrence among all cancers, with a risk for first-degree relatives of 5/10-fold. Tumors are multifocal, recur more frequently, and show an earlier age of onset than sporadic cases. Inheritance patterns indicate that fNMTC is transmitted as an autosomal dominant trait with reduced penetrance, but a multigenic inheritance could not be excluded. In collaboration with the International Consortium for the Genetics of fNMTC, we previously mapped two predisposing loci. The first one, TCO (Thyroid tumor with Cell Oxyphilia), was mapped to the 19p13.2 region (Canzian et al., 1998). The second locus, NMTC1 (Non-Medullary Thyroid Carcinoma 1), mitochondrial dna mutation gene pedigree rearrangement variant untranslated region protein affected sporadic linkage locus sequence candidate gene heteroplasmy allele phenotype incidence familial mitochondria frequency genome survival affected sib-pair western blot transfection splicing single nucleotide polymorphism signal transduction screening proto-oncogene prevalence predisposition polymerase chain reaction marker genotyping genomic dna genetics family history expression exon enhancer domain chromosome cell line haplotype heterogeneous lod score kilobase isolate isoforms ionizing radiation insertion inherited inheritance incomplete penetrance hybrid autosomal dominant LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: E. Bonora end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Bonora_350.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetics-thyroid-cancer-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mitochondria-and-cancer http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mitochondria-and-cancer-2009-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mitochondrial-mutations-and-cancer-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/697 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mitochondrial-medicine http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mitochondria-and-cancer-cancer-genetics-2007-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mendelian-genetics-complex-genetic-disorders-model-hirschsprung-disease-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/spectrum-and-expression-analysis-krit1-mutations-121-consecutive-and-unrelated-patients-cere http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetics-biological-mechanisms-and-beyond-embo-lecture-course-mitochondrial-medicine-2009 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/mitochondria-and-cancer LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c42 Treatment eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m57 Overfunction (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m58 Function in different tissues (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation m51 Gain of function (Dynamic mutation) http://eurogene.open.ac.uk/content/aneuploidy-2009 en Aneuploidy, the presence of an abnormal number of chromosomes, is one of the most striking characteristics of cancer cells. The majority of malignant tumours are overtly aneuploid although some tumour types like e.g. papillary thyroid carcinomas are diploid or near-diploid. aneuploidy deoxyribonucleic acid gene mutation chromosome spindle centromere population replication heterogeneity abnormal probe single nucleotide polymorphism fluorescent in situ hybridization flow cytometry genome Array genomic hybridization phenotype diploid transformation promoter anaphase bacterial artificial chromosome protein Spectral Karyotyping tetraploidy threshold trisomy unbalanced translocation telomere polyploid probability paint clone cytogenetics daughter cell expression genomic dna interphase metaphase mitosis monosomy LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: C.J. Cornelisse end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Cees J. Cornelisse_351.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/aneuploidy-and-tumour-heterogeneity http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/fiber-fish-2006-2008 LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c22 Trisomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c21 Monosomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c23 Mosaicism eurogene m1 Molecular genetics eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m89 CGH eurogene m1 Molecular genetics m2 Studies of chromatin eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome m11 Chromosome rearangement eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction m65 Aneuploidy eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m87 Chromosome banding eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m88 FISH analyses eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c6 Chromosomal disorders http://eurogene.open.ac.uk/content/functional-significance-single-nucleotide-polymorphisms en It is generally believed that knowledge of inherited genetic variation is going to have a profound impact on our understanding of human disease. There are currently two major approaches to link genetic variation to disease phenotypes. Both are association study designs, comparing genotypes in cases and controls, but one approach selects common single nucleotide polymorphisms (SNPs) in candidate genes whereas the other is a genome-wide approach without prior inferences on gene function. Candidate genes are genes that are selected either because they are located in a chromosomal region of interest or on the basis of other evidence that they might affect disease risk. The recent completion of the human genome sequence, the deposition of millions of SNPs into public databases, and rapid improvements in SNP genotyping technology have set the stage for the genome-wide approach, in which a dense set of SNPs across the genome is genotyped to survey the most common genetic variation for a role in disease. Such studies rely on linkage disequilibrium between loci to identify genotype-disease associations, for which knowledge of function is not required. Nonetheless, no comprehensive, well-powered genome-wide study has been published to date, mostly because the genotyping costs are still prohibitive. But the proponents of genome-wide association studies suggest that such studies will identify many variants that contribute to common disease. The most comprehensive analysis of candidate genes is obtained by resequencing the entire gene in patients and controls, and searching for a variant or set of variants that is enriched or depleted in disease cases. However, because such studies are still laborious and expensive, they have been largely limited to the coding regions of one or a few candidate genes. Besides the selection of the candidate gene, which is obviously limited by available knowledge on the aetiology of the disease under study, a major challenge for epidemiologists un gene single nucleotide polymorphism expression sequence genome genotype linkage disequilibrium gene expression trait allele haplotype variation BRCA population selection genomics multifactorial kilobase mutation minor allele frequency variant allele frequency mutation rate association chromosome cis configuration genetics pedigree association studies phenotype locus linkage variance in vivo in vitro hotspot algorithm functional genomics frequency fitness expansion enhancer drift deoxyribonucleic acid cell culture cell candidate gene Analysis of the entire coding region: Sequence analysis linkage analysis maternal monogenic genome scan heterozygote transcription splicing sib domain reduced penetrance proteomics presymptomatic testing polymorphism polygenic phenotyping messenger rna allelic heterogeneity LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: P. Devilee end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Devilee_352.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/functional-significance-snps-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/oncogenomics-cancer-genetics-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/various-uses-dna-variations http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/issues-power-genetic-analysis-2005-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/cancer-genetics-2007-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/independent-effects-%C3%A0219-g4t-and-e2e3e4-polymorphisms-apolipoprotein-e-gene-coronary-artery- http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/further-characteristics-proto-european-y-chromosomes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/medical-genetics-2007-g-complex-genetic-disorders http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-isolated-and-founder-populations-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-i-1 LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s34 Population-based (Familial aggregation) eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) eurogene m1 Molecular genetics m78 Studies of DNA m81 Gene expression http://eurogene.open.ac.uk/content/hereditary-cancer-implications-treatment en Hereditary breast cancer Genetic predisposition to breast cancer may influence pathobiology and prognosis, responses to treatment and future cancer risks. Treatment responses and predicted future risks may influence choices for familial breast cancer management. Individuals who have previous experience of breast cancer will have their own perceptions of the impact of the diagnosis in the context of their own social and cultural setting and this will influence the investment in prevention each is prepared to make. It is important that clinicians are able to present a fair interpretation of current data concerning risk and management to their patients. Knowledge of the mechanism of action of BRCA1 and BRCA2 in effecting double strand DNA break repair has lead to proposals for new targeted therapeutic agents currently in phase 1 clinical trials. In addition, observations of a differential response to chemotherapeutic agents of cancer cell lines null for BRCA2 or BRCA1 have lead to the designing of phase 2 clinical trials to test these observations in humans. Trials of primary prevention have centred round reducing oestrogen exposure in young women gene carriers. More recently interest in dietary intervention trials has been more prevalent – trial design in the prevention setting is challenging. The efficacy of oestrogen deprivation and adjuvant therapies in reducing future cancer risks are relevant to the evaluation of management strategies for the cancer patient. Much of the currently published clinical data concentrates on the diagnosis and management of BRCA1 and BRCA2 gene carriers and an overview of the current knowledge of how background genotype may influence tumour biology will be discussed in the context of a woman presenting with newly diagnosed breast cancer. Comparison between the need for adequate cancer treatment to maximise long term survival and management of the increased future cancer risk conferred by genetic status is important to keep in per BRCA hereditary deoxyribonucleic acid familial cell microsatellite instability mastectomy hereditary non-polyposis colorectal cancer cell line phenotype gene dna repair carrier survival replication fork cell cycle affected synthesis recurrence risk protein chromatid cohort colonoscopy competent dna polymerase excision genotype mitosis oncogene prophylactic surgery LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: D. Eccles end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Diana Eccles 2_353.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/hereditary-cancer-implications-treatment-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-counseling-cancer-genetics LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c42 Treatment eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m57 Overfunction (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m58 Function in different tissues (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation m51 Gain of function (Dynamic mutation) http://eurogene.open.ac.uk/content/several-paths-cancer en A presentation on several paths to cancer by Prof. L. Luzzatto gene cell penetrance population dominant recessive mutation inheritance polymorphism locus syndrome candidate gene linkage disequilibrium ca repeat adenomatous polyposis coli BRCA allele predisposing mutation mutation rate genotype frequency oncogene mutant familial metabolism hereditary non-polyposis colorectal cancer inherited expression variant somatic mutation somatic cell prevalence linkage analysis intron null allele carcinogen relative risk sensitivity apoptosis linkage affected survival tumor suppressor gene variable number tandem repeats specificity sequence abnormal cell division chromosome deletion dna repair domain environmental factor familial relative risk genetic disease hereditary heredity human leucocyte antigen methylation mode of inheritance modifier gene protein proto-oncogene LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: L. Luzzato end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/luzzato_354.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/low-penetrance-cancer-genes http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/medical-genetics-2006-cancer-genetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/low-penetrance-cancer-genes-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-cancer-susceptibility-cancer-genetics-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/non-mendelian-inheritance-what-do-we-learn-medical-genetics-exceptions-mendel%E2%80%99s-laws-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/non-mendelian-inheritance-what-do-we-learn-medical-genetics-exceptions-mendel%E2%80%99s-laws http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/cancer-genetics-2007-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/inherited-forms-cancer-molecular-basis-clinical-management-2009-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/breast-and-colon-cancer-cancer-genetics-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/statistical-genetic-analysis-complex-phenotypes-2005-0 LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c42 Treatment eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m57 Overfunction (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m58 Function in different tissues (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation m51 Gain of function (Dynamic mutation) http://eurogene.open.ac.uk/content/array-cgh-cancer-genetic-research-2005 en Characterizing of Chromosomal Aberrations in Cancer Cells Genomic instability is the hallmark of cancer (Lengauer et al, 1998). As cancer cells develop, genomic aberrations accumulate. These aberrations include large DNA rearrangements such as chromosome loss or duplication or the translocation of DNA from one chromosome to another. Also smaller chromosomal regions may be deleted or amplified. These aberrations may occur by chance and may be persistent by selection due to e.g. growth advantage. Study on the accumulation of aberrations in colon cancer has helped to understand tumor progression (Vogelstein et al, 1988). In other types of cancer, research is still ongoing in understanding the onset and progression of cancer. Some genomic aberrations have prognostic value, and targeted therapies have been developed that require adequate diagnostic tools. Comparative genomic hybridization (CGH) The genetic analysis of (solid) tumors was hampered in the past by the difficulty to culture tumor cells from these tumors. As a result, relatively little was known about the overall genomic aberrations in these tumors. In 1991, Dan Pinkel’s group at the University of California at San Francisco developed a technique that allowed the genome-wide analysis of large chromosomal aberrations by a technique they called “CGH” Comparative Genomic Hybridization (Kallioniemi et al, 1992) Comparative genomic hybridization (CGH) is based on the competitive hybridization of tumor and normal DNA to metaphase chromosomes on microscopic slides. Since it uses DNA isolated from the tumor, no cell culture is required. Tumor DNA is labeled (directly or indirectly) with a green fluorochrome, and the normal DNA with a red fluorochrome. After hybridization to metaphase chromosomes and subsequent stringent washes, digital microscope images are collected and the fluorescence intensities along the chromosomes is quantified. The method has a limited sensitivity, resolution, and throughput (Alber Array genomic hybridization clone bacterial artificial chromosome BRCA genome probe gene fluorescent in situ hybridization chromosome Spectral Karyotyping molecular genetics homozygote mutation oncogene locus hereditary hybridization fixed expression cell culture single nucleotide polymorphism survival polymorphism sporadic karyogram kilobase Multicolor FISH quantitative PCR rearrangement sequence oligonucleotide metaphase Complementary DNA cell cell line cancer genetics Analysis of the entire coding region: Mutation scanning association base pair duplication genetics genomic dna cosmid cytogenetics deoxyribonucleic acid tumor suppressor gene allele variation heterozygote copy number polymorphism LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: P.M. Nederlof end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Nederlof_355.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/array-cgh-cancer-research-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/microarray-technology-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-cytogenetics-and-dna-microarrays-2006-part-b http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-cytogenetics-and-dna-microarrays-2006-part-b-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-cytogenetics-and-dna-microarrays-2005-part-b http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-cytogenetics-and-dna-macroarrays-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genomic-polymorphisms-and-genomic-disorders-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/comparative-genomic-hybridisation-cgh http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/stratification-dna-micro-arrays-oncology-techniques-and-results-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/new-approaches-molecular-cytogenetics-2005 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/comparative-genomic-hybridisation-cgh LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c6 Chromosomal disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c22 Trisomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c21 Monosomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c23 Mosaicism eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c24 Translocation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c25 Deletion eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c26 Duplication eurogene m1 Molecular genetics eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m89 CGH eurogene m1 Molecular genetics m2 Studies of chromatin eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome m11 Chromosome rearangement eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction m65 Aneuploidy eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m87 Chromosome banding http://eurogene.open.ac.uk/content/gene-expression-and-chemoresistance-2005 en With the exception of a few tumor forms, including testicular cancer and lymphomas, chemotherapy remains non-curative for advanced solid tumors. Thus, despite the fact that many patients will experience tumor shrinkage on therapy, resistance develops, and the tumor inevitably becomes resistant to all forms of therapy. The fact that certain cytotoxics may significantly improve long-term survival in breast cancer (1) despite being non-curative in advanced disease raises challenging questions to our understanding of chemoresistance as well as the metastatic process. Being the tumor most extensively studied, breast cancer may serve as a model exploring genetic alterations with respect to treatment outcome. While multiple factors have been found associated with prognosis (outcome) in breast cancer, a few only have been related to therapy responsiveness or drug sensitivity. In contrast to experimental data, so far little evidence has suggested a major role of p-glycoprotein or related pump mechanisms causing drug resistance in human cancers. HER-2 amplification has been associated with dose-responsiveness to anthracycline therapy in breast cancer (2), probably related to co-amplification of the topoisomerase-IIalpha gene (3). While mutations in TP53 have been associated with resistance to anthracyclines but also mitomycin (references in (4)), the sensitivity of TP53 mutations predicting drug resistance does not support testing for clinical use. Similar, while defects in DNA repair mechanisms, like the mismatch repair system, but also nucleotide excision repair, have been associated with an inferior response to 5-fluoro-uracil in colon cancer and platinum drugs in gastric and ovarian cancer respectively (5-7), none of these parameters have been implemented for routine testing with respect to therapy. While microarrays have shown prognostic impact in breast cancer (8, 9) as well as in other malignancies, the results with respect to predict drug sensitivity have been less apoptosis gene survival oncogene mutation sensitivity protein cell in vitro in vivo microarray syndrome alpha homozygous gene expression correlation expression polymorphism messenger rna acetylation promoter nucleotide mismatch repair mechanism knock-out heterozygous genetics gene product excision deoxyribonucleic acid deletion cell line beta association stem cell tumor suppressor gene BRCA transcript antigen LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: P.E. Lønning end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Per E Lonning_358.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/gene-expression-and-chemoresistance-2005-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/literature-based-interpretation-microarray-data http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/design-microarray-gene-expression-profiling-experiments http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/data-integration-and-text-mining LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c4 Single gene disorders eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c8 Gene interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c5 Multifactorial conditions c9 Environment interaction eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c52 Somatic/germline mutation eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c51 Tumorsuppresor genes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c48 Growth regulation c50 Oncogenes eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) c31 Cancer genetics c49 Knudson eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c46 Molecular (laboratory investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c42 Treatment eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c44 Prevention eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m81 Gene expression eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m57 Overfunction (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m49 Gain of function (Static mutation) m58 Function in different tissues (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m45 Static mutation m50 Loss of function (Static mutation) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m13 Disease-associated alterations (mutation/deletion/duplication/insertion) m46 Dynamic mutation m51 Gain of function (Dynamic mutation) http://eurogene.open.ac.uk/content/allelic-association-and-linkage-disequilibrium-mapping-2005 en A presentation of Allelic association and linkage disequilibrium mapping by T.F. Wienker in 2005 9th course in cancer genetics. association locus population genotype linkage genetics frequency allele linkage disequilibrium marker single nucleotide polymorphism haplotype gene allele frequency survival threshold liability protein genome centimorgan transmission disequilibrium test trait polymorphism case-control ribonucleic acid ligase linkage analysis pedigree complex inheritance phase multifactorial phenotype deoxyribonucleic acid affected genotyping haplotype analysis haploid diploid ascertainment association studies chi-square correlation sporadic variance variation quantitative trait recombination population genetics prevalence promoter random mating informative kilobase kindred heredity heterogeneity heterozygous homozygous parental penetrance mutation multifactorial inheritance km microsatellite LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: T.F. Wienker end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/wienker_359.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/560 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-studies-analytical-issues http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-and-hapmap http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genome-wide-association-studies-and-hapmap-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/measured-haplotype-analysis-aldosterone-synthase-gene-and-heart-size http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/association-and-genome-wide-association-studies http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/population-based-association-studies-2006 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/overview-mapping-strategies-2005 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/2nd-course-statistical-genetic-analysis-complex-phenotypes-2006-special-issues-association-s LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/linkage-analysis-complex-phenotypes LOMv1.0 Discipline eurogene eurogene s1 Statistical genetics eurogene s1 Statistical genetics s2 Genetic epidemiology eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s38 Population-based (Gene modelling) s47 Multifactorial (Population-based) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s37 Genome-wide s45 Association (Genome-wide) eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f5 HWE eurogene s1 Statistical genetics s26 Mathematical models used in statistical genetics s29 Population genetics f8 LD eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related eurogene c0 Clinical/medical genetics c32 Patient related c34 Population related d3 Screening eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s35 Family-based (Familial aggregation) eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate eurogene s1 Statistical genetics s2 Genetic epidemiology s14 Gene discovery s36 Candidate s43 Association (Candidate) eurogene s1 Statistical genetics s2 Genetic epidemiology s32 Gene modelling s39 Family-based (Gene modelling) eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s41 Multifactorial eurogene s1 Statistical genetics s2 Genetic epidemiology s33 Translation to medicine and public health s40 Major-gene eurogene s1 Statistical genetics s2 Genetic epidemiology s31 Familial aggregation s34 Population-based (Familial aggregation) eurogene m1 Molecular genetics eurogene m1 Molecular genetics m78 Studies of DNA eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) eurogene m1 Molecular genetics m78 Studies of DNA m3 Studies of DNA (as a sequence) m12 Human variability (SNPs/microsatellites/copy-number variation) http://eurogene.open.ac.uk/content/health-e-child-project-2008 en Health-e-Child represent a new approach for studying a group of congenital heart diseases characterized by right ventricular overload (namely Atrial Septal Defect, Anomalous Pulmonary Venous Return, and Post-operative Tetralogy of Fallot) and the Cardiomyopathies: vertical integration of epidemiologic, clinical, radiologic, laboratory, biologic and genetic data. The heart diseases that can cause right ventricular overload are many: three of them will be taken in consideration in our study: Atrial Septal Defect, Anomalous Pulmonary Venous Return, and Tetralogy of Fallot post-op. Different genetic causes have been found both for the Atrial Septal Defect and the Anomalous Pulmonary Venous Return wheather in isolated or syndromic forms. Nowadays, new powerful scientific and technologic tools are available to try better understanding of heart diseases with right ventricular overload and cardiomyopathies. These range from potent imagine techniques, such as Three-dimensional Echocardiography, Tissue-Doppler Imaging, Integrated Backscatter, Acoustic Boundary Detection, Color Kinesis and the Magnetic Resonance Imaging that can give a detailed picture of the heart without exposing the child to any harm, to standardized clinical assessment methods and sophisticated genetic techniques. The aim of this project is to integrate and analyse all the data (epidemiologic, clinical, radiologic, laboratory tests, histologic and genetic) that are collected during the routine care of your child in order to: 1) define a classified algorithm for the diagnosis of right ventricular overload. Currently, no standardized form for right ventricular function exists; moreover, this study helps to discover more molecular information to detemine genetic causes of disease subgroups, these information in future can guide to more specific and appropriate therapeutic approaches 2) produce a classification for the cardiomyopathies in different subgroups according to the identified genetic or non gen gene Array genomic hybridization heterogeneous base deoxyribonucleic acid proteomics genetics expression vector cell deletion domain duplication epidermal growth factor fluorescent in situ hybridization gene expression genomics phenotype selection candidate gene LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: G. Pongiglione end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Pongiglione 1_360.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University First Cycle LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/118abstractabstracts2430pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/341abstractabstracts2700pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/data-integration-and-text-mining LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/cardiogenesis-and-congenital-cardiopathies-2008-part-1 LOMv1.0 Discipline eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl32 Patient education / explanation eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl32 Patient education / explanation cl322 Educational material eurogene http://eurogene.open.ac.uk/content/genomic-variations-continuum-snps-chromosome-aneuploidy-2008 en On 2003 it had been solemnly announced that the human genome project was ended with the 99% of the genome that had been sequenced at an accuracy of 99.9%. The solemnity of the announcement was due to the fact that, having sequenced the genome of few individuals, the scientists thought to have in their hands the genome of the entire humanity. This was due to the conviction that the genome of healthy individuals was identical by 99.9%, the main differences apparently consisting in changes of single base pair (SNPs) that account for 0.1% of the genome. However, the following year two papers cancelled these certainties by showing that the genomes of healthy individuals may differ in many regions, sized at least 100 kb but even few Mb, that can be duplicated or deleted. These data had been soon confirmed and enlarged leading to the conclusion that about 17% of our genome can be duplicated or deleted in healthy individuals. The analysis of these genome copy number variations (CNVs) demonstrated that some CNVs are in fact without phenotypic effect, others act as factors of susceptibility to complex diseases, others act as dominant mutations and, finally, others cause contiguous gene syndromes similarly to unbalanced chromosome rearrangements. The genome-wide array analysis of some chromosomal abnormalities detected through the conventional cytogenetic showed also unexpected results and more complex than expected imbalances. gene population duplication deletion genome kilobase phenotype syndrome sequence Human immunodeficiency virus Analysis of the entire coding region: Sequence analysis diploid beta chromosome protein variation penetrance hormone adenomatous polyposis coli virus variant probe Array genomic hybridization association autosomal dominant base pair contiguous gene syndrome deoxyribonucleic acid exon expression fluorescent in situ hybridization microdeletion mutation abnormal affected dna sequencing dysplasia enzyme familial familial adenomatous polyposis fitness fixed frequency genetics human genome project critical region conjugation Acquired immunodeficiency syndrome alpha aneuploidy antigen autoimmune disease autosomal recessive bacterial artificial chromosome cis configuration common disease congenital inheritance karyotype locus unaffected substitution malformation metabolism methylation nucleotide prenatal diagnosis probability quantitative selection sex-determining region of the y single nucleotide polymorphism LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: O. Zuffardi end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/zuffardi_361.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/cardiogenesis-and-congenital-cardiopathies-2008-part-1 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/cardiogenesis-and-congenital-cardiopathies-developmental-models-clinical-applications-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/integration-cytogenetics-microarrays-and-massive-sequencing-biomedical-and-clinical-researc-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/molecular-karyotyping-not-only-cytogenetics-2007 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/human-cytogenetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/prenatal-diagnosis-and-array-cgh-ready-go-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-counselling-practice-2007-part-b http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/clinical-cytogenetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/mendelian-syndromes-and-large-scale-deletionduplication-transformation-clinical-cytogenetics http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/medical-genetics-2006-genome-variability LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/cardiogenesis-and-congenital-cardiopathies-2008-part-1 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/integration-cytogenetics-microarrays-and-massive-sequencing-biomedical-and-clinical-researc-0 LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/human-cytogenetics LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c22 Trisomy eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction eurogene m1 Molecular genetics m2 Studies of chromatin m9 Mitosis m64 Non-disjunction m65 Aneuploidy eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome eurogene m1 Molecular genetics m2 Studies of chromatin m5 Structure of chromosome m11 Chromosome rearangement eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m87 Chromosome banding eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics cl3 Genetic counselling eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl32 Patient education / explanation eurogene c0 Clinical/medical genetics cl3 Genetic counselling cl32 Patient education / explanation cl322 Educational material eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m88 FISH analyses eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques eurogene m1 Molecular genetics m4 Techniques m75 Cytogenetic techniques m89 CGH eurogene m1 Molecular genetics m4 Techniques m86 Array based/high throughput technologies eurogene m1 Molecular genetics m78 Studies of DNA eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c24 Translocation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c18 Chromosome number anomaly c21 Monosomy eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c25 Deletion eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c39 Laboratory investigation c12 Cytogenetics c19 Chromosome structure anomaly c26 Duplication eurogene c0 Clinical/medical genetics c1 Disease related (typology of disorder) http://eurogene.open.ac.uk/content/right-ventricular-overload-clinical-context-imaging-analysis-and-computational-models en Different innovative modalities of analysis of right ventricle in post-operative Tetralogy of Fallot (TOF) will be discussed thoroughly. TOF is one of the most frequent congenital heart diseases, it constitutes 25% of all paediatric cardiac surgery operations. To date, around 5% of Tetralogy of Fallot have a known genetic cause. sievert Array genomic hybridization correlation genetics base pair candidate gene centimorgan familial fluorescent in situ hybridization genetic counselling microdeletion mutation sequence sporadic LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: G. Pongiglione end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/Pongiglione 2_362.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/right-ventricular-overload-clinical-context-imaging-analysis-and-computational-models-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/fishing-breaks-chromosome-22-paradigm-analysis-genomic-disorders http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/343abstractabstracts2702pdf http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/genetic-counselling-practice-2009-d http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/clinical-applications-array-cgh LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) c16 Malformation eurogene m1 Molecular genetics m78 Studies of DNA m81 Gene expression eurogene m1 Molecular genetics eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m78 Studies of DNA http://eurogene.open.ac.uk/content/embryology-cardiac-vascular-tissue en Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. A major part of heart formation is the division of a common cardiac atrium and ventricle into right- and left-sided chambers, which represent an essential evolutionary step in the development of the four-chambered heart and is necessary for separation of oxygenated and deoxygenated blood. In humans, failure of atrial or ventricular septation accounts for nearly 50% of CHDs and requires open-heart surgery to restore normal circulation. Although cardiac septal defects are common, the precise molecular mechanisms for cardiac septal closure in humans remain to be elucidated. Some insight in the mechanism has come from mutations identified in the transcription factors CSX (NKX2.5), TBX5 and GATA4. CSX mutations have been identified in individuals with cardiac septal defects with or without conduction abnormalities, individuals with the Holt–Oram syndrome (HOS)—characterized by septal defects, conduction abnormalities and limb anomalies—have point mutations in TBX5, and individuals with mutations in GATA4 have non-syndromic forms of cardiac septal defects. Interestingly the GATA4 mutations identified not only diminish the DNA binding affinity of GATA4, but also abrogate physical interaction between GATA4 and TBX5 establishing a direct relation between GATA4 and TBX5. Recently mutations in MYH6, ACTC1 and other new sarcomeric genes have been implicated in atrial septation defects. Recent developments in this areas and new techniques and methods will be discussed. embryo trisomy syndrome maternal LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: A.V. Postma end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/postma_363.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/embryology-vascular-tissue-vasculogenesis-2008 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/development-heart http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/noonan-syndrome LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/development-heart LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) c16 Malformation eurogene m1 Molecular genetics m78 Studies of DNA m81 Gene expression eurogene m1 Molecular genetics m4 Techniques m76 Cell-biological assays m39 Cell and tissue culture models eurogene m1 Molecular genetics m4 Techniques m76 Cell-biological assays eurogene m1 Molecular genetics m4 Techniques m77 In-vivo assays eurogene m1 Molecular genetics eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m78 Studies of DNA http://eurogene.open.ac.uk/content/bmp-pathway-and-limb-development-2008 en Cell-cell interactions are critical to the development of organs and organisms. They involve a limited number of signalling pathways. BMP signalling molecules (a subclass of the TGFß superfamily) constitute a major one. Over the last years, this pathway has been well documented, from the synthesis and processing of BMP ligands, the control of their activity by intercellular inhibitors, the structure of their receptors (BMPR) and the activation of the SMAD transcription factors downstream of BMPR. Noticeably, each of these steps in the pathway may be the place for regulation / modulation of the BMP signal. In the limb bud, BMPs, namely BMP2, BMP4 and BMP7, are prominent signalling molecules that are required at many stages of limb development. Before limb budding, they are involved in the dorsal-ventral (DV) specification of the lateral plate mesoderm, and in the transfer of DV information to the ectoderm after the bud has emerged. This way, dorsal and ventral regions form compartments characterized by their status relative to BMP signalling. At the two compartment boundary, the apical ectodermal ridge (AER) will form. BMPs therefore play a critical role in formation and positioning of the AER. In the mesoderm, they are required at most stages of limb bud morphogenesis. Initially, they govern cell proliferation, thus regulating the amount of mesenchyme available for the future limb skeleton; then, mesenchyme condensation that will lead to the formation of digit primordial; and at later stages, cartilage differentiation and bone calcification. The use of inducible mutations in BMP and BMPR genes has recently shed light on the multiple roles of BMPs in limb development. These recent results will be discussed. epidermal growth factor gene expression expansion linkage morphogenesis multigene family phase phenotype transcription factor apoptosis LOMv1.0 Linear LOMv1.0 2 LOMv1.0 Final LOMv1.0 Author begin:vcard fn: B. Robert end:vcard LOMv1.0 Content Provider begin:vcard fn: European Genetics Foundation end:vcard 2009-01-13 application/vnd.ms-powerpoint http://eurogene.open.ac.uk/fileupload/BRobert_364.ppt LOMv1.0 Mixed LOMv1.0 Narrative Text LOMv1.0 medium LOMv1.0 medium LOMv1.0 Teacher LOMv1.0 Learner LOMv1.0 Author LOMv1.0 Higher Education LOMv1.0 University Second Cycle LOMv1.0 University Postgrade LOMv1.0 Professional Formation > 18 LOMv1.0 medium LOMv1.0 no LOMv1.0 yes Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/bmp-pathway-and-limb-development http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/clinical-dysmorphology-2008-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/bmp-pathway-and-limb-development-2008-0 http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/developmental-genes-limb http://eurogene.open.ac.uk/content/relationships/ related http://eurogene.open.ac.uk/content/clinical-dysmorphology-2008-part-1-limb LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/clinical-dysmorphology-2008-part-1-limb LOMv1.0 IsPartOf http://eurogene.open.ac.uk/content/clinical-dysmorphology-2008-0 LOMv1.0 Discipline eurogene eurogene c0 Clinical/medical genetics eurogene c0 Clinical/medical genetics c32 Patient related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) eurogene c0 Clinical/medical genetics c32 Patient related c33 Patient/family related c36 Patient management c35 Diagnosis of patient disease c10 Clinical investigation c13 Structural (clinical investigation) c16 Malformation eurogene m1 Molecular genetics m78 Studies of DNA m81 Gene expression eurogene m1 Molecular genetics m4 Techniques m76 Cell-biological assays m39 Cell and tissue culture models eurogene m1 Molecular genetics m4 Techniques m76 Cell-biological assays eurogene m1 Molecular genetics m4 Techniques m77 In-vivo assays eurogene m1 Molecular genetics eurogene m1 Molecular genetics m4 Techniques eurogene m1 Molecular genetics m78 Studies of DNA http://eurogene.open.ac.uk/content/neural-crest-derived-tissues-2008 en Neural crest cells (NCC) form in the human embryo during the third to fifth weeks of pregnancy by migrating away from the neuroepithelium, itself derived from the ectoderm. NCC derivatives include the neurons and support cells of the entire peripheral nervous system (sensory and autonomic), adrenergic and other endocrine cells, and all pigment cells except those arising from the retina. In the head, in addition to the above cell types, NCC differentiate into connective and structural tissues such as dermis, bones and cartilage of most of the skull and muscle tendons. They also infiltrate and are essential for the function of glandular and vascular elements such as the thymus, the thyroid and parathyroid glands, a distinct sector of the heart and vascular tree, giving rise to connective, adipose and smooth muscle cells. This diversity has led to the NCC population being nicknamed the “fourth embryonic germ layer”. NCC in fact have a great deal in common with stem cells. Therefore, problems affecting their self-renewal, programmed cell death, or differentiation lead to a large class of malformations and cancers known as “neurocristopathies” and discussed in depth in other lectures. NCC colonize four body sectors unequal in size and, of course, distribution: the skin, the peripheral nervous system, parts of the endocrine system and a pharyngocephalic pole. Anomalies affecting any of these compartments will warrant closer examination of the other compartments. This course will discuss the time- and environmentally dependent differentiation of NCC. We will touch on a few of the molecular properties that determine fate decisions and how they tie in with human pathology. We will also explore the idea that embryological lineage relationships can guide the clinician to understanding the diversity of organs affected in certain complex syndromes. The talk will focus in particu