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

ABSTRACT: 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. For example, within DiscovEHR we identified ∼66,000 close (first- and second-degree) relationships, involving 55.6% of study participants. Our simulation results project that >70% of the cohort will be involved in these close re

SUBMITTER: Staples J 

PROVIDER: S-EPMC5986700 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature