Article

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

2015-10-30

Abstract excerpt

<h4>Summary</h4> 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) sequence data for 60,706 individuals of diverse ethnicities generated as part of the Exome Aggregation Consortium (ExAC). The resulting catalogue of human genetic d...

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Literature Corpus work: 1a3a4b0b-bbb2-5fb2-8284-59d5f70a14b6
DOI: 10.1101/030338

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