Towards fair and clinically relevant polygenic predictions.

Vilhjálmsson, Bjarni Jóhann

Vilhjálmsson, Bjarni Jóhann.

Afiliación

Vilhjálmsson BJ; National Centre for Register-based Research, Aarhus BSS, Aarhus University, Aarhus, Denmark; Bioinformatics Research Centre, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Novo Nordisk Foundation Centre for Genomics Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: bjv.ncrr@au.dk.

Trends Genet ; 40(5): 379-380, 2024 May.

Article en En | MEDLINE | ID: mdl-38643035

ABSTRACT

ABSTRACT

Lennon et al. recently proposed a clinical polygenic score (PGS) pipeline as part of the Electronic Medical Records and Genomics (eMERGE) network initiative. In this spotlight article we discuss the broader context for the use of PGS in preventive medicine and highlight key limitations and challenges facing their inclusion in prediction models.

Asunto(s)

Herencia Multifactorial; Herencia Multifactorial/genética; Humanos; Genómica; Predisposición Genética a la Enfermedad; Estudio de Asociación del Genoma Completo; Registros Electrónicos de Salud; Medicina Preventiva

Palabras clave

clinical risk assessment; diverse ancestry; polygenic scores

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Herencia Multifactorial Límite: Humans Idioma: En Revista: Trends Genet Asunto de la revista: GENETICA Año: 2024 Tipo del documento: Article

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