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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone, William P; Washington, Nicole L; Buske, Orion J; Adams, David R; Davis, Joie; Draper, David; Flynn, Elise D; Girdea, Marta; Godfrey, Rena; Golas, Gretchen; Groden, Catherine; Jacobsen, Julius; Köhler, Sebastian; Lee, Elizabeth M J; Links, Amanda E; Markello, Thomas C; Mungall, Christopher J; Nehrebecky, Michele; Robinson, Peter N; Sincan, Murat; Soldatos, Ariane G; Tifft, Cynthia J; Toro, Camilo; Trang, Heather; Valkanas, Elise; Vasilevsky, Nicole; Wahl, Colleen; Wolfe, Lynne A; Boerkoel, Cornelius F; Brudno, Michael; Haendel, Melissa A; Gahl, William A; Smedley, Damian.
Afiliação
  • Bone WP; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Washington NL; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA.
  • Buske OJ; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.
  • Adams DR; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Davis J; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Draper D; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Flynn ED; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Girdea M; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Godfrey R; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Golas G; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.
  • Groden C; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Jacobsen J; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Köhler S; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Lee EM; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Links AE; Skarnes Faculty group, Wellcome Trust Sanger Institute, Hinxton, UK.
  • Markello TC; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Mungall CJ; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Nehrebecky M; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Robinson PN; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Sincan M; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA.
  • Soldatos AG; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Tifft CJ; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Toro C; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Trang H; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Valkanas E; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Vasilevsky N; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Wahl C; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Wolfe LA; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.
  • Boerkoel CF; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Brudno M; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Haendel MA; Library; and Department of Medical Informatics and Epidemiology, Oregon Health & Science University, Portland, Oregon, USA.
  • Gahl WA; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Smedley D; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
Genet Med ; 18(6): 608-17, 2016 06.
Article em En | MEDLINE | ID: mdl-26562225
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Exoma / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans País/Região como assunto: America do norte Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Exoma / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans País/Região como assunto: America do norte Idioma: En Ano de publicação: 2016 Tipo de documento: Article