ExAC

[PMID:27535533] [Nature]

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

“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).” “identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype.”

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