Polygenic scores (PGS) have shown promise in predicting complex traits and disease risk, but their accuracy remains limited and poorly transferable across ancestries. Integrating functional annotations with whole-genome sequencing data can improve prediction by prioritizing likely causal variants shared across populations and by assigning greater weight to variants in biologically relevant regions.
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Zeng, J., Visscher, P.M. Harnessing functional annotation to improve the accuracy and transferability of polygenic scores. Nat Rev Genet (2025). https://doi.org/10.1038/s41576-025-00893-4
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DOI: https://doi.org/10.1038/s41576-025-00893-4
