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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande, Natasha T; Riggs, Erin Rooney; Buchanan, Adam H; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A; Sneddon, Tam P; Wright, Matt W; Milko, Laura V; Cherry, J Michael; Giovanni, Monica A; Murray, Michael F; O'Daniel, Julianne M; Ramos, Erin M; Santani, Avni B; Scott, Alan F; Plon, Sharon E; Rehm, Heidi L; Martin, Christa L; Berg, Jonathan S.
Afiliação
  • Strande NT; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
  • Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA 17837, USA.
  • Buchanan AH; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
  • Ceyhan-Birsoy O; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA; The Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA.
  • DiStefano M; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA.
  • Dwight SS; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  • Goldstein J; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
  • Ghosh R; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Seifert BA; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
  • Sneddon TP; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  • Wright MW; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  • Milko LV; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
  • Cherry JM; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  • Giovanni MA; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
  • Murray MF; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
  • O'Daniel JM; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
  • Ramos EM; National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Santani AB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Scott AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Plon SE; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rehm HL; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA; The Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA.
  • Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA 17837, USA; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA. Electronic address: clmartin1@geisinger.edu.
  • Berg JS; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA. Electronic address: jonathan_berg@med.unc.edu.
Am J Hum Genet ; 100(6): 895-906, 2017 Jun 01.
Article em En | MEDLINE | ID: mdl-28552198
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Genômica / Estudos de Associação Genética Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Genômica / Estudos de Associação Genética Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos