25th ESGM Medical Genetics Course

Submitted: Friday 6th of July 2012 09:18:15 AM
Submitted by: egf
Language: English
Educational levels: qc2, qc3



Lectures from the 2012 edition of the ESGM Medical Genetics Course


The introduction to the 25th edition of the ESGM Medical Genetics Course.
What is dysmorphology? David Smith from the USA first used the term “dysmorphology” in the 1960’s to describe the study of human congenital malformations and patterns of birth defects. The subject is broad, and to be a dysmorphologist one needs to be knowledgeable in many areas, from embryolo ...
There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we ar ...
During the last years, it has become clear that copy number variations (CNVs) are much more prevalent than previously thought. This insight was made possible by the development of arrays to scan the human genomeIn this session the general principles of genome wide CNV detection by arrays will be ...
People tend to see genetics as raising uniquely sensitive ethical issues. Whether that view is right or wrong, it does mean that as working geneticists we have to be specially sensitive to the ethical implications of our work. Although we all subscribe to general principles of ethical conduct, somet ...
Recent studies have indicated that humans have an exceptionally high per-generation mutation rate of 7.6 x 10-9 to 2.2 x 10-8. These spontaneous germline mutations can have serious phenotypic consequences when affecting functionally relevant bases in the genome. In fact, their occurrence may explain ...

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abnormal, acetylation, adenomatous polyposis coli, affected, allele, allele frequency, alpha, amino acid, amniotic fluid, Analysis of the entire coding region: Sequence analysis, aneuploidy, Array genomic hybridization, association, association studies, autism, autosomal dominant, autosomal recessive, bacterial artificial chromosome, base pair, blastomere, candidate gene, cell, chromosome, clinical genetics, coding sequence, codon, cohort, common disease, congenital, cytosol, de novo, deformation, deletion, deoxyribonucleic acid, diploid, disomy, disruption, dna polymorphisms, dna sequencing, domain, duplication, dysmorphic feature, dysmorphology, dysplasia, epidermal growth factor, exon, expectation maximization algorithm, expression, expressivity, family history, fc, fitness, frequency, gene, gene locus, genetic condition, genetic disease, genetic marker, genetic variation, genetics, genome, genomic dna, genomics, genotype, genotyping, germline, haploinsufficiency, helix, hemizygous, hereditary, heredity, heterogeneous, heterozygous, histone, homologous, homologous recombination, homozygous, hybrid, incidence, incomplete penetrance, indels, informed consent, inherited, insertion, inversion, kilobase, library, ligate, ligation, linkage, long interspersed nuclear element, malformation, maternal, metabolic disorder, microarray, microdeletion, missense mutation, mode of inheritance, monogenic, mosaic, mosaicism, multifactorial, mutation, mutation rate, neuroscience, non-disjunction, nonsense mutation, nucleotide, nucleus, nullisomy, pathogenic mutation, penetrance, phenotype, polygenic, polymerase chain reaction, polymorphism, population, population risk, positional cloning, power, preimplantation genetic diagnosis, prenatal diagnosis, primer, proband, processing, protein, rearrangement, recombination, recurrence risk, segmental, segmental duplication, selection, sensitivity, sequence, single nucleotide polymorphism, sister chromatid exchange, somatic, sporadic, syndrome, trait, transcription, transcription factor, translocation, triploid, trisomy, unaffected, variable expressivity, variant, variation, x-inactivation



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