Phenome-wide Burden of Copy Number Variation in the UK Biobank

Copy number variations (CNVs) represent a significant proportion of the genetic differences between individuals and many CNVs associate causally with syndromic disease and clinical outcomes. Here, we characterize the landscape of copy number variation and their phenome-wide effects in a sample of 472,228 array-genotyped individuals from the UK Biobank. In addition to population-level selection effects against genic loci conferring high mortality, we describe genetic burden from potentially pathogenic and previously uncharacterized CNV loci across more than 3,000 quantitative and dichotomous traits, with separate analyses for common and rare classes of variation.

Source: The American Journal of Human Genetics - July 24, 2019 Category: Genetics & Stem Cells Authors: Matthew Aguirre, Manuel A. Rivas, James Priest Tags: Article Source Type: research