HMB321H1 Lecture Notes - Lecture 14: Genome-Wide Association Study, Snp Genotyping, Quality Control

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Where a common phenotype is associated with a common variant. Thus, doing a gwas in a large cohort of individuals may be able to nd that common marker. Nih gwas (de nition) = study of common genetic variation across entire human genome to identify genetic associations with observable traits. Can compare affected to unaffected (case-control) vs. observed/expected p(x) of shared markers. Not hypothesis driven (i. e. search and then make hypothesis) vs. hypothesis driven. Beyond nding disease genes => can be used to . (b) isolate dna and genotype (snp genotyping must pass quality control threshold) Make sure each variant is a true variant (not something common to all) (d) replicate in additional cohort + perform functional experiments. Start with clinical records, i. e. databanks => proper selection of groups is key (can alter results, Start with clinical records, i. e. databanks => proper selection of groups is key (can alter results, e. g. women vs. men in a study, e. g. 2.

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