An allelic-series rare-variant association test for candidate-gene discovery.

McCaw, Zachary R; O'Dushlaine, Colm; Somineni, Hari; Bereket, Michael; Klein, Christoph; Karaletsos, Theofanis; Casale, Francesco Paolo; Koller, Daphne; Soare, Thomas W

McCaw, Zachary R; O'Dushlaine, Colm; Somineni, Hari; Bereket, Michael; Klein, Christoph; Karaletsos, Theofanis; Casale, Francesco Paolo; Koller, Daphne; Soare, Thomas W.

Afiliación

McCaw ZR; Insitro, South San Francisco, CA, USA. Electronic address: zmccaw@insitro.com.
O'Dushlaine C; Insitro, South San Francisco, CA, USA.
Somineni H; Insitro, South San Francisco, CA, USA.
Bereket M; Insitro, South San Francisco, CA, USA.
Klein C; Insitro, South San Francisco, CA, USA.
Karaletsos T; Insitro, South San Francisco, CA, USA.
Casale FP; Institute of AI for Health, Helmholtz Munich, Neuherberg, Germany; Helmholtz Pioneer Campus, Helmholtz Munich, Neuherberg, Germany; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany.
Koller D; Insitro, South San Francisco, CA, USA.
Soare TW; Insitro, South San Francisco, CA, USA. Electronic address: tsoare@insitro.com.

Am J Hum Genet ; 110(8): 1330-1342, 2023 08 03.

Article en En | MEDLINE | ID: mdl-37494930

Asunto(s)

Variación Genética; Lípidos; Simulación por Computador; Estudios de Asociación Genética; Fenotipo; Estudio de Asociación del Genoma Completo

Palabras clave

allelic series; gene-based test; rare-variant association testing; target identification; variant pathogenicity; whole-exome sequencing

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Lípidos Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article

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