Article
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
American journal of human genetics - 3 May 2018
Staples Jeffrey, Maxwell Evan K, Gosalia Nehal, Gonzaga-Jauregui Claudia, Snyder Christopher, Hawes Alicia, Penn John, Ulloa Ricardo, Bai Xiaodong, Lopez Alexander E, Van Hout Cristopher V, O'Dushlaine Colm, Teslovich Tanya M, McCarthy Shane E, Balasubramanian Suganthi, Kirchner H Lester, Leader Joseph B, Murray Michael F, Ledbetter David H, Shuldiner Alan R, Yancoupolos George D, Dewey Frederick E, Carey David J, Overton John D, Baras Aris, Habegger Lukas, Reid Jeffrey G
Abstract excerpt
Large-scale human genetics studies are ascertaining increasing proportions of populations as they continue growing in both number and scale. As a result, the amount of cryptic relatedness within these study cohorts is growing rapidly and has significant implications on downstream analyses. We demonstrate this growth empirically among the first 92,455 exomes from the DiscovEHR cohort and, via a custom simulation...
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