๐Ÿ‘ค David McWilliams

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Keri L Tabb, Jacklyn N Hellwege, Nicholette D Palmer +18 more ยท 2017 ยท Annals of human genetics ยท Blackwell Publishing ยท added 2026-04-24
Family-based methods are a potentially powerful tool to identify trait-defining genetic variants in extended families, particularly when used to complement conventional association analysis. We utiliz Show more
Family-based methods are a potentially powerful tool to identify trait-defining genetic variants in extended families, particularly when used to complement conventional association analysis. We utilized two-point linkage analysis and single variant association analysis to evaluate whole exome sequencing (WES) data from 1205 Hispanic Americans (78 families) from the Insulin Resistance Atherosclerosis Family Study. WES identified 211,612 variants above the minor allele frequency threshold of โ‰ฅ0.005. These variants were tested for linkage and/or association with 50 cardiometabolic traits after quality control checks. Two-point linkage analysis yielded 10,580,600 logarithm of the odds (LOD) scores with 1148 LOD scores โ‰ฅ3, 183 LOD scores โ‰ฅ4, and 29 LOD scores โ‰ฅ5. The maximal novel LOD score was 5.50 for rs2289043:T>C, in UNC5C with subcutaneous adipose tissue volume. Association analysis identified 13 variants attaining genome-wide significance (Pโ€‰<โ€‰5โ€‰ร—โ€‰10 Show less
๐Ÿ“„ PDF DOI: 10.1111/ahg.12184
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