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Article

Realizing the promise of genome-wide association studies for effector gene prediction.

Nature genetics - 1 Jul 2025

Costanzo Maria C, Harris Laura W, Ji Yue, McMahon Aoife, Burtt Noël P, Flannick Jason

Abstract excerpt

Genome-wide association studies (GWAS) identify regions of the genome in which genetic variation is associated with the risk of complex diseases, such as diabetes, or the magnitude of traits, such as blood pressure. Determining which 'effector genes' mediate the effects of GWAS associations is essential to using GWAS to understand disease mechanisms and develop new therapies. In recent years, GWAS authors have...

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PMID: 40442285
DOI: 10.1038/s41588-025-02210-5
PMCID: PMC12286715

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