首页> Science (New York, N.Y.)> Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

导出 LinkOut

翻译打印收藏纠错

第一作者： Frederick E,Dewey

第一单位： Regeneron Genetics Center, Tarrytown, NY 10591, USA. djcarey@geisinger.edu frederick.dewey@regeneron.com.

作者： Frederick E,Dewey ^[1] ; Michael F,Murray ^[2] ; John D,Overton ^[3] ; Lukas,Habegger ^[3] ; Joseph B,Leader ^[2] ; Samantha N,Fetterolf ^[2] ; Colm,O'Dushlaine ^[3] ; Cristopher V,Van Hout ^[3] ; Jeffrey,Staples ^[3] ; Claudia,Gonzaga-Jauregui ^[3] ; Raghu,Metpally ^[2] ; Sarah A,Pendergrass ^[2] ; Monica A,Giovanni ^[2] ; H Lester,Kirchner ^[2] ; Suganthi,Balasubramanian ^[3] ; Noura S,Abul-Husn ^[3] ; Dustin N,Hartzel ^[2] ; Daniel R,Lavage ^[2] ; Korey A,Kost ^[2] ; Jonathan S,Packer ^[3] ; Alexander E,Lopez ^[3] ; John,Penn ^[3] ; Semanti,Mukherjee ^[3] ; Nehal,Gosalia ^[3] ; Manoj,Kanagaraj ^[3] ; Alexander H,Li ^[3] ; Lyndon J,Mitnaul ^[3] ; Lance J,Adams ^[2] ; Thomas N,Person ^[2] ; Kavita,Praveen ^[3] ; Anthony,Marcketta ^[3] ; Matthew S,Lebo ^[4] ; Christina A,Austin-Tse ^[4] ; Heather M,Mason-Suares ^[4] ; Shannon,Bruse ^[3] ; Scott,Mellis ^[5] ; Robert,Phillips ^[5] ; Neil,Stahl ^[5] ; Andrew,Murphy ^[5] ; Aris,Economides ^[3] ; Kimberly A,Skelding ^[2] ; Christopher D,Still ^[2] ; James R,Elmore ^[2] ; Ingrid B,Borecki ^[3] ; George D,Yancopoulos ^[5] ; F Daniel,Davis ^[2] ; William A,Faucett ^[2] ; Omri,Gottesman ^[3] ; Marylyn D,Ritchie ^[2] ; Alan R,Shuldiner ^[3] ; Jeffrey G,Reid ^[3] ; David H,Ledbetter ^[2] ; Aris,Baras ^[3] ; David J,Carey ^[6]

作者单位： Regeneron Genetics Center, Tarrytown, NY 10591, USA. djcarey@geisinger.edu frederick.dewey@regeneron.com. ^[1] Geisinger Health System, Danville, PA 17822, USA. ^[2] Regeneron Genetics Center, Tarrytown, NY 10591, USA. ^[3] Laboratory for Molecular Medicine, Cambridge, MA 02139, USA. ^[4] Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA. ^[5] Geisinger Health System, Danville, PA 17822, USA. djcarey@geisinger.edu frederick.dewey@regeneron.com. ^[6]