Ontology highlight
ABSTRACT:
SUBMITTER: Lek M
PROVIDER: S-EPMC5018207 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Nature 20160801 7616
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 bases of the exome, and provides direct evidence fo ...[more]