Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
Abstract
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (<0.5% frequency) in exome sequencing data from nearly 60,000 individuals in the Exome Aggregation Consortium (ExAC) database. On average, individuals possessed 0.81 deleted and 1.75 duplicated genes, and most (70%) carried at least one rare genic CNV. For every...
Paper Details
Title
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
Published Date
Aug 17, 2016
Journal
Volume
48
Issue
10
Pages
1107 - 1111
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