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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh, Jignesh R; Genetti, Casie A; Aykanat, Asli; Brownstein, Catherine A; Schmitz-Abe, Klaus; Danowski, Morgan; Quitadomo, Andrew; Madden, Jill A; Yacoubian, Calum; Gain, Richard; Williams, Tessa; Meskell, Mary; Brown, Andrew; Frith, Alison; Rockowitz, Shira; Sliz, Piotr; Agrawal, Pankaj B; Defay, Thomas; McDonagh, Paul; Reynders, John; Lefebvre, Sebastien; Beggs, Alan H.
  • Parikh JR; J Square Labs, LLC, Natick, MA 01760, USA.
  • Genetti CA; These authors contributed equally to this work.
  • Aykanat A; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Brownstein CA; These authors contributed equally to this work.
  • Schmitz-Abe K; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Danowski M; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Quitadomo A; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Madden JA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Yacoubian C; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Gain R; Computational Health Informatics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Williams T; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Meskell M; Clinithink, Ltd., London N1 6DR, UK.
  • Brown A; Clinithink, Ltd., London N1 6DR, UK.
  • Frith A; Clinithink, Ltd., London N1 6DR, UK.
  • Rockowitz S; Clinithink, Ltd., London N1 6DR, UK.
  • Sliz P; Clinithink, Ltd., London N1 6DR, UK.
  • Agrawal PB; Clinithink, Ltd., London N1 6DR, UK.
  • Defay T; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • McDonagh P; Computational Health Informatics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Reynders J; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Lefebvre S; Computational Health Informatics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
HGG Adv ; 2(3)2021 Jul.
Article en En | MEDLINE | ID: mdl-34514437
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline Idioma: En Año: 2021 Tipo del documento: Article