Towards fair and clinically relevant polygenic predictions.

Vilhjálmsson, Bjarni Jóhann

Vilhjálmsson, Bjarni Jóhann.

Afiliação

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 em 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.

Assuntos

Herança Multifatorial; Herança Multifatorial/genética; Humanos; Genômica; Predisposição Genética para Doença; Estudo de Associação Genômica Ampla; Registros Eletrônicos de Saúde; Medicina Preventiva

Palavras-chave

clinical risk assessment; diverse ancestry; polygenic scores

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Herança Multifatorial Limite: Humans Idioma: En Revista: Trends Genet Assunto da revista: GENETICA Ano de publicação: 2024 Tipo de documento: Article

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