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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
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.
Afiliación
  • Dewey FE; Regeneron Genetics Center, Tarrytown, NY 10591, USA. djcarey@geisinger.edu frederick.dewey@regeneron.com.
  • Murray MF; Geisinger Health System, Danville, PA 17822, USA.
  • Overton JD; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Habegger L; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Leader JB; Geisinger Health System, Danville, PA 17822, USA.
  • Fetterolf SN; Geisinger Health System, Danville, PA 17822, USA.
  • O'Dushlaine C; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Van Hout CV; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Staples J; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Metpally R; Geisinger Health System, Danville, PA 17822, USA.
  • Pendergrass SA; Geisinger Health System, Danville, PA 17822, USA.
  • Giovanni MA; Geisinger Health System, Danville, PA 17822, USA.
  • Kirchner HL; Geisinger Health System, Danville, PA 17822, USA.
  • Balasubramanian S; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Abul-Husn NS; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Hartzel DN; Geisinger Health System, Danville, PA 17822, USA.
  • Lavage DR; Geisinger Health System, Danville, PA 17822, USA.
  • Kost KA; Geisinger Health System, Danville, PA 17822, USA.
  • Packer JS; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Lopez AE; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Penn J; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Mukherjee S; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Gosalia N; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Kanagaraj M; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Li AH; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Mitnaul LJ; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Adams LJ; Geisinger Health System, Danville, PA 17822, USA.
  • Person TN; Geisinger Health System, Danville, PA 17822, USA.
  • Praveen K; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Marcketta A; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Lebo MS; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
  • Austin-Tse CA; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
  • Mason-Suares HM; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
  • Bruse S; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Mellis S; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
  • Phillips R; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
  • Stahl N; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
  • Murphy A; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
  • Economides A; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Skelding KA; Geisinger Health System, Danville, PA 17822, USA.
  • Still CD; Geisinger Health System, Danville, PA 17822, USA.
  • Elmore JR; Geisinger Health System, Danville, PA 17822, USA.
  • Borecki IB; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Yancopoulos GD; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
  • Davis FD; Geisinger Health System, Danville, PA 17822, USA.
  • Faucett WA; Geisinger Health System, Danville, PA 17822, USA.
  • Gottesman O; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Ritchie MD; Geisinger Health System, Danville, PA 17822, USA.
  • Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
Science ; 354(6319)2016 Dec 23.
Article en En | MEDLINE | ID: mdl-28008009
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 1_ASSA2030 Problema de salud: 1_sistemas_informacao_saude Asunto principal: Enfermedad / Prestación Integrada de Atención de Salud / Registros Electrónicos de Salud / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Science Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 1_ASSA2030 Problema de salud: 1_sistemas_informacao_saude Asunto principal: Enfermedad / Prestación Integrada de Atención de Salud / Registros Electrónicos de Salud / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Science Año: 2016 Tipo del documento: Article