Article
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science (New York, N.Y.) - 23 Dec 2016
Dewey Frederick E, Murray Michael F, Overton John D, Habegger Lukas, Leader Joseph B, Fetterolf Samantha N, O'Dushlaine Colm, Van Hout Cristopher V, Staples Jeffrey, Gonzaga-Jauregui Claudia, Metpally Raghu, Pendergrass Sarah A, Giovanni Monica A, Kirchner H Lester, Balasubramanian Suganthi, Abul-Husn Noura S, Hartzel Dustin N, Lavage Daniel R, Kost Korey A, Packer Jonathan S, Lopez Alexander E, Penn John, Mukherjee Semanti, Gosalia Nehal, Kanagaraj Manoj, Li Alexander H, Mitnaul Lyndon J, Adams Lance J, Person Thomas N, Praveen Kavita, Marcketta Anthony, Lebo Matthew S, Austin-Tse Christina A, Mason-Suares Heather M, Bruse Shannon, Mellis Scott, Phillips Robert, Stahl Neil, Murphy Andrew, Economides Aris, Skelding Kimberly A, Still Christopher D, Elmore James R, Borecki Ingrid B, Yancopoulos George D, Davis F Daniel, Faucett William A, Gottesman Omri, Ritchie Marylyn D, Shuldiner Alan R, Reid Jeffrey G, Ledbetter David H, Baras Aris, Carey David J
Abstract excerpt
The DiscovEHR collaboration between the Regeneron Genetics Center and Geisinger Health System couples high-throughput sequencing to an integrated health care system using longitudinal electronic health records (EHRs). We sequenced the exomes of 50,726 adult participants in the DiscovEHR study to identify ~4.2 million rare single-nucleotide variants and insertion/deletion events, of which ~176,000 are predicted to...
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