Analysis of protein-coding genetic variation in 60,706 humans

Nature64.80
Volume: 536, Issue: 7616, Pages: 285 - 291
Published: Aug 18, 2016
Abstract
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight...
Paper Details
Title
Analysis of protein-coding genetic variation in 60,706 humans
Published Date
Aug 18, 2016
Journal
Volume
536
Issue
7616
Pages
285 - 291
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