The DOI matches its Crossref record; 171 of the 171 references it cites were found in a registry or an index.
Principles and methods for transferring polygenic risk scores across global populations
Open accessAbstract
This Review summarizes the genetic and non-genetic factors that impact the transferability of polygenic risk scores (PRSs) across populations, highlighting the technical challenges of existing PRS construction methods for diverse ancestries and the emerging resources for more widespread use of PRSs. Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.
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Pankratov, V., Mezzavilla, M., Aneli, S., Kuznetsov, I. A., Fusco, D., Wilson, J. F., Metspalu, M., Provero, P., Pagani, L., & Marnetto, D. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01678-9 · Cited by 10
Metadata
- Authors
- Kachuri, L., Chatterjee, N., Hirbo, J., Schaid, D. J., Martin, I., Kullo, I. J., Kenny, E. E., Pasaniuc, B., Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group, Auer, P. L., Conomos, M. P., Conti, D. V., Ding, Y., Wang, Y., Zhang, H., Zhang, Y., Witte, J. S., & Ge, T.
- Venue
- Nature Reviews Genetics
- Published
- 2023-08-24
- Volume
- 25
- Issue
- 1
- Pages
- 8-25
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W4386136485
- Cited by
- 328
- References
- 171
- FWCI
- 16.49
- Type
- journal article
- Language
- en
- Open access
- green
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- Kachuri, L., Chatterjee, N., Hirbo, J., Schaid, D. J., Martin, I., Kullo, I. J., Kenny, E. E., Pasaniuc, B., Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group, Auer, P. L., Conomos, M. P., Conti, D. V., Ding, Y., Wang, Y., Zhang, H., Zhang, Y., Witte, J. S., & Ge, T. (2024). Principles and methods for transferring polygenic risk scores across global populations. Nature Reviews Genetics. https://doi.org/10.1038/s41576-023-00637-2
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