Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Monkol Lek, Konrad Karczewski, Eric Minikel, Kaitlin Samocha, Eric Banks, Timothy Fennell, Anne O'Donnell-Luria, James Ware, Andrew Hill, Beryl Cummings, Taru Tukiainen, Daniel Birnbaum, Jack Kosmicki, Laramie Duncan, , Douglas
This paper analyzes protein-coding genetic variation in 60,706 humans to catalog diversity, assess pathogenicity, and identify genes under strong selection.
Nature · Aug 17, 2016Peer-reviewedGenomics