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6
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. 미리보기

학술저널

issue
HGG advances [HGG Adv] 2021 Jul; Vol. 2 (3). Date of Electronic Publication: 2021 May 11.
Author
Parikh JR; J Square Labs, LLC, Natick, MA 01760, USA.; These authors contributed equally to this work.
Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; 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; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, 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 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.; Computational Health Informatics Program, 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; Clinithink, Ltd., London N1 6DR, UK.
Gain R; Clinithink, Ltd., London N1 6DR, UK.
Williams T; Clinithink, Ltd., London N1 6DR, UK.
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; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Computational Health Informatics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Sliz P; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Computational Health Informatics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Agrawal PB; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Defay T; Alexion Pharmaceuticals, Inc., Boston, MA 02210, USA.
McDonagh P; Alexion Pharmaceuticals, Inc., Boston, MA 02210, USA.; Present address: Sema4, Stamford, CT 06902, USA.
Reynders J; Alexion Pharmaceuticals, Inc., Boston, MA 02210, USA.; Present address: Latent Strategies, LLC, Newton, MA 02465, USA.
Lefebvre S; Alexion Pharmaceuticals, Inc., Boston, MA 02210, 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.
DB Label
Database : MEDLINE
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