Article

Phenome-wide burden of copy number variation in UK Biobank

2019-02-10

Abstract excerpt

Copy number variations (CNV) 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...

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Literature Corpus work: 276bfb62-20dc-517f-852a-bd7dbe72b558
DOI: 10.1101/545996

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