Your browser doesn't support javascript.
loading
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega, Francisco M; Chowdhury, Shimul; Moore, Barry; Frise, Erwin; McCarthy, Jeanette; Hernandez, Edgar Javier; Wong, Terence; James, Kiely; Guidugli, Lucia; Agrawal, Pankaj B; Genetti, Casie A; Brownstein, Catherine A; Beggs, Alan H; Löscher, Britt-Sabina; Franke, Andre; Boone, Braden; Levy, Shawn E; Õunap, Katrin; Pajusalu, Sander; Huentelman, Matt; Ramsey, Keri; Naymik, Marcus; Narayanan, Vinodh; Veeraraghavan, Narayanan; Billings, Paul; Reese, Martin G; Yandell, Mark; Kingsmore, Stephen F.
Afiliação
  • De La Vega FM; Fabric Genomics Inc., Oakland, CA, USA.
  • Chowdhury S; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.
  • Moore B; Current Address: Tempus Labs Inc., Redwood City, CA, 94065, USA.
  • Frise E; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • McCarthy J; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Hernandez EJ; Fabric Genomics Inc., Oakland, CA, USA.
  • Wong T; Fabric Genomics Inc., Oakland, CA, USA.
  • James K; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Agrawal PB; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Genetti CA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Brownstein CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Beggs AH; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
  • Löscher BS; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Franke A; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Boone B; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Levy SE; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel & University Hospital Schleswig-Holstein, Kiel, Germany.
  • Õunap K; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel & University Hospital Schleswig-Holstein, Kiel, Germany.
  • Pajusalu S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Huentelman M; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Ramsey K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Naymik M; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Narayanan V; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Veeraraghavan N; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Billings P; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Reese MG; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Yandell M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Kingsmore SF; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Genome Med ; 13(1): 153, 2021 10 14.
Article em En | MEDLINE | ID: mdl-34645491
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inteligência Artificial / Doenças Raras Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inteligência Artificial / Doenças Raras Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article