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Article

Methodologies underpinning polygenic risk scores estimation: a comprehensive overview.

Human genetics - 1 Nov 2024

Ndong Sima Carene Anne Alene, Step Kathryn, Swart Yolandi, Schurz Haiko, Uren Caitlin, Möller Marlo

Abstract excerpt

Polygenic risk scores (PRS) have emerged as a promising tool for predicting disease risk and treatment outcomes using genomic data. Thousands of genome-wide association studies (GWAS), primarily involving populations of European ancestry, have supported the development of PRS models. However, these models have not been adequately evaluated in non-European populations, raising concerns about their clinical...

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PMID: 39425790
DOI: 10.1007/s00439-024-02710-0
PMCID: PMC11522080

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