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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Deisseroth, Cole A; Birgmeier, Johannes; Bodle, Ethan E; Kohler, Jennefer N; Matalon, Dena R; Nazarenko, Yelena; Genetti, Casie A; Brownstein, Catherine A; Schmitz-Abe, Klaus; Schoch, Kelly; Cope, Heidi; Signer, Rebecca; Martinez-Agosto, Julian A; Shashi, Vandana; Beggs, Alan H; Wheeler, Matthew T; Bernstein, Jonathan A; Bejerano, Gill.
Afiliação
  • Deisseroth CA; Department of Computer Science, Stanford University, Stanford, CA, USA.
  • Birgmeier J; Department of Computer Science, Stanford University, Stanford, CA, USA.
  • Bodle EE; Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA.
  • Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford, CA, USA.
  • Matalon DR; Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA.
  • Nazarenko Y; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
  • Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Brownstein CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Schmitz-Abe K; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Schoch K; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • Cope H; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • Signer R; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Shashi V; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Beggs AH; Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Wheeler MT; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • Bernstein JA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bejerano G; Stanford Center for Undiagnosed Diseases, Stanford, CA, USA.
Genet Med ; 21(7): 1585-1593, 2019 07.
Article em En | MEDLINE | ID: mdl-30514889
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Prontuários Médicos / Biologia Computacional / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Prontuários Médicos / Biologia Computacional / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos