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Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.


ABSTRACT: Early identification of genetic risk factors for complex diseases can enable timely interventions and prevent serious outcomes, including mortality. While the genetics underlying many Mendelian diseases have been elucidated, it is harder to predict risk for complex diseases arising from the combined effects of many genetic variants with smaller individual effects on disease aetiology. Polygenic risk scores (PRS), which combine multiple contributing variants to predict disease risk, have the potential to influence the implementation for precision medicine. However, the majority of existing PRS were developed from European data with limited transferability to African populations. Notably, African populations have diverse genetic backgrounds, and a genomic architecture with smaller haplotype

SUBMITTER: Fatumo S 

PROVIDER: S-EPMC10614359 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature