Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring.

Petter, Ella; Ding, Yi; Hou, Kangcheng; Bhattacharya, Arjun; Gusev, Alexander; Zaitlen, Noah; Pasaniuc, Bogdan

Petter, Ella; Ding, Yi; Hou, Kangcheng; Bhattacharya, Arjun; Gusev, Alexander; Zaitlen, Noah; Pasaniuc, Bogdan.

Afiliación

Petter E; Department of Computer Science, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: ellapetter@ucla.edu.
Ding Y; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Hou K; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Bhattacharya A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Gusev A; Dana-Farber Cancer Institute, Boston, MA, USA; Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Zaitlen N; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Neurology, UCLA, Los Angeles, CA, USA; Department of Computational Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Pasaniuc B; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen

Am J Hum Genet ; 110(8): 1319-1329, 2023 08 03.

Article en En | MEDLINE | ID: mdl-37490908

Asunto(s)

Genómica; Polimorfismo de Nucleótido Simple; Incertidumbre; Genotipo; Genómica/métodos; Secuenciación Completa del Genoma; Polimorfismo de Nucleótido Simple/genética

Palabras clave

PGS; PGS error; effect sizes; genotype error; lcWGS; risk stratification; uncertainty

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Genómica Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article

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