Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

McInnes, Gregory; Sharo, Andrew G; Koleske, Megan L; Brown, Julia E H; Norstad, Matthew; Adhikari, Aashish N; Wang, Sheng; Brenner, Steven E; Halpern, Jodi; Koenig, Barbara A; Magnus, David C; Gallagher, Renata C; Giacomini, Kathleen M; Altman, Russ B

McInnes, Gregory; Sharo, Andrew G; Koleske, Megan L; Brown, Julia E H; Norstad, Matthew; Adhikari, Aashish N; Wang, Sheng; Brenner, Steven E; Halpern, Jodi; Koenig, Barbara A; Magnus, David C; Gallagher, Renata C; Giacomini, Kathleen M; Altman, Russ B.

Afiliación

McInnes G; Biomedical Informatics Training Program, Stanford University, Stanford, CA 94305, USA.
Sharo AG; Biophysics Graduate Group, University of California, Berkeley, Berkeley, CA 94720, USA; Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley, CA 94720, USA.
Koleske ML; Department of Bioengineering and Therapeutics, University of California, San Francisco, San Francisco, CA 94143, USA.
Brown JEH; Program in Bioethics, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Health & Aging, University of California, San Francisco, San Francisco, CA 94143, USA.
Norstad M; Program in Bioethics, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Health & Aging, University of California, San Francisco, San Francisco, CA 94143, USA.
Adhikari AN; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley, CA 94720, USA; Illumina, Inc., Foster City, CA 94404, USA.
Wang S; Paul G. Allen School of Computer Science & Engineering, University of Washington, Seattle, WA 98195, USA.
Brenner SE; Biophysics Graduate Group, University of California, Berkeley, Berkeley, CA 94720, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley, CA 94720, USA.
Halpern J; UCSF-UCB Joint Medical Program, School of Public Health, University of California, Berkeley, Berkeley, CA 94720, USA.
Koenig BA; Program in Bioethics, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Health & Aging, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; D
Magnus DC; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Gallagher RC; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
Giacomini KM; Department of Bioengineering and Therapeutics, University of California, San Francisco, San Francisco, CA 94143, USA.
Altman RB; Departments of Bioengineering & Genetics, Stanford University, Stanford, CA 94305, USA. Electronic address: rbaltman@stanford.edu.

Am J Hum Genet ; 108(4): 535-548, 2021 04 01.

Article en En | MEDLINE | ID: mdl-33798442

Asunto(s)

Variación Genética/genética; Genética Médica; Genómica; Aprendizaje Automático; Errores Innatos del Metabolismo/genética; Farmacogenética; Medicina de Precisión; Genoma Humano/genética; Humanos; Recién Nacido

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Farmacogenética / Variación Genética / Genómica / Medicina de Precisión / Aprendizaje Automático / Genética Médica / Errores Innatos del Metabolismo Tipo de estudio: Guideline Aspecto: Ethics Límite: Humans / Newborn Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

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