Lecture 14

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University of Toronto St. George
Human Biology
Maria Papaconstantinou

9 MAR 2011HMB321 L14 Genome Wide Association Studies GWASCommon DiseaseCommon Variant HypothesisGWAS are based on this CDCVD hypothesisWhere a common phenotype is associated with a common variantThus doing a GWAS in a large cohort of individuals may be able to nd that common markerNIH GWAS denitionstudy of common genetic variation across entire human genome to identify genetic associations with observable traitsGWA vs LinkagePopulation study vs Family studyWhole genome vs Pedigrees indicating candidate generegionsMany SNPs vs Few SNPsCan compare affected to unaffected casecontrol vs Observedexpected Px of shared markersComplex vs Single causative geneNot hypothesis driven ie Search and then make hypothesis vs Hypothesis drivenWhat do GWAS studyBeyond nding disease genescan be used toFind gene variants with complex traitsSee slide for remainder4 Components of GWASA Select study populationB Isolate DNA and genotype SNP genotyping must pass quality control thresholdMake sure you accurately genotypeMake sure each variant is a true variant not somet
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