Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

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 framework we developed called SimProgeny, show that these measures are in line with expectations given the underlying population and ascertainment approach.

Source: The American Journal of Human Genetics - May 3, 2018 Category: Genetics & Stem Cells Authors: Jeffrey Staples, Evan K. Maxwell, Nehal Gosalia, Claudia Gonzaga-Jauregui, Christopher Snyder, Alicia Hawes, John Penn, Ricardo Ulloa, Xiaodong Bai, Alexander E. Lopez, Cristopher V. Van Hout, Colm O ’Dushlaine, Tanya M. Teslovich, Shane E. McCarthy, Su Tags: Article Source Type: research