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Article

PGSFusion streamlines polygenic score construction and epidemiological applications in biobank-scale cohorts.

Genome medicine - 14 Jul 2025

Yang Sheng, Ye Xiangyu, Ji Xiaolong, Li Zhenghui, Tian Min, Huang Peng, Cao Chen

Abstract excerpt

BACKGROUND: The polygenic score (PGS) is an estimate of an individual's genetic susceptibility to a specific complex trait and has been instrumental to the development of precision medicine. As an increasing number of genome-wide association studies (GWAS) have emerged, numerous sophisticated statistical and computational methods have been developed to facilitate the PGS construction. However, both the complex...

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PMID: 40653480
DOI: 10.1186/s13073-025-01505-w
PMCID: PMC12257662

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