The impact of Genetic Medicine on common and rare genetic disorders

Author: Giovanni Romeo
Submitted: Thursday 3rd of November 2011 09:14:35 AM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc2, qc3

Abstract

METHODOLOGICAL WORKSHOP given during the ESGM First Summer Course in Comparative Health.

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Original version - English

abstract Giovanni_Romeo_20110901_5167.pdf

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Giovanni Romeo. The impact of Genetic Medicine on common and rare genetic disorders. EUROGENE portal. November 2011. online: http://eurogene.open.ac.uk/content/impact-genetic-medicine-common-and-rare-genetic-disorders

Keywords

affected, affected sibpair, allele, Analysis of the entire coding region: Sequence analysis, association, association studies, autism, autosomal recessive, base, base pair, carrier, carrier screening, case-control, cell, centimorgan, chromosome, common disease, community genetics, complex disease, congenital, consanguineous, consanguineous marriage, consanguinity, de novo, deletion, deoxyribonucleic acid, duplication, dysplasia, environmental factor, enzyme, exon, expression, familial, family history, fixed, fluorescent in situ hybridization, founder, frequency, gene, gene locus, gene pool, genetic counselling, genetic counsellor, genetic disease, genetic predisposition, genetic variation, genetics, genome, genome wide association, genomics, genotype, haplotype, haplotype block, hapmap project, hereditary, heredity, heterogeneous, heterozygous, hotspot, human genome project, human leucocyte antigen, hybrid, inherited, karyotype, kilobase, linkage, linkage analysis, linkage disequilibrium, locus, malformation, marker, mendelian disorder, minor allele frequency, monogenic, mutation, nucleotide, pedigree, penetrance, phase, phenotype, polymerase chain reaction, polymorphic marker, polymorphism, population, positional cloning, power, predisposing mutation, prevalence, probability, protein, recombination, relative risk, replication, ribonucleic acid, screening, selection, sequence, sib, single nucleotide polymorphism, splice site, syndrome, tagging snp, threshold, trait, variant, variation, x-chromosome

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