Principles and methods for transferring polygenic risk scores across global populations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://www.nature.com/articles/s41576-023-00637-2.pdf
Reference169 articles.
1. Kullo, I. J. et al. Polygenic scores in biomedical research. Nat. Rev. Genet. 23, 524–532 (2022).
2. Abdellaoui, A., Yengo, L., Verweij, K. J. H. & Visscher, P. M. 15 years of GWAS discovery: realizing the promise. Am. J. Hum. Genet. 110, 179–194 (2023).
3. Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584–591 (2019). This paper demonstrates that PRSs have limited generalizability across populations and emphasizes the importance of diversity to realize the full and equitable potential of PRSs.
4. Fatumo, S. et al. A roadmap to increase diversity in genomic studies. Nat. Med. 28, 243–250 (2022). This paper presents an updated ancestry tabulation for participants in GWAS catalogue and discusses strategies for increasing diversity in genomic studies.
5. Zhou, W. et al. Global Biobank Meta-analysis Initiative: powering genetic discovery across human disease. Cell Genom. 2, 100192 (2022).
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