The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Genomics is failing on diversity
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“Poor generalizability of genetic studies across populations arises from the overwhelming abundance of European descent studies and dearth of well-powered studies in globally diverse populations25–28.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [26]
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“So far, because most genome-wide association studies have been conducted in populations with European ancestry [33], the effect sizes used in calculating polygenic scores have been calibrated on Europeans, and their values might not transfer accurately to other populations.”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [33]
In the citing paper
“Although polygenic risk scores have a great potential as predictive biomarkers, 81% of GWAS studies are conducted in individuals of European ancestry.31”
From Addressing bias in big data and AI for health care: A call for open science (2021) · cites this paper as [31]
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Cites
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Effective recruitment and retention of minority research participants.
Yancey, A., Ortega, A., & Kumanyika, S. (2006) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.27.021405.102113 · Cited by 1,247
Genetic Misdiagnoses and the Potential for Health Disparities
Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., Margulies, D. M., Loscalzo, J., & Kohane, I. S. (2016) · New England Journal of Medicine · doi:10.1056/nejmsa1507092 · Cited by 808
Desta, Z., Ward, B. A., Soukhova, N. V., & Flockhart, D. A. (2004) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.104.065607 · Cited by 646
Bustamante, C. D., Vega, F. M. D. L., & Burchard, E. G. (2011) · Nature · doi:10.1038/475163a · Cited by 594
Greenlandic Inuit show genetic signatures of diet and climate adaptation
Fumagalli, M., Moltke, I., Grarup, N., Racimo, F., Bjerregaard, P., Jørgensen, M. E., Korneliussen, T. S., Gerbault, P., Skotte, L., Linneberg, A. R., et al. (2015) · Science · doi:10.1126/science.aab2319 · Cited by 519
Next generation disparities in human genomics: concerns and remedies
Need, A. C., & Goldstein, D. B. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.09.012 · Cited by 398
Carlson, C. S., Matise, T. C., North, K. E., Haiman, C. A., Fesinmeyer, M. D., Buyske, S. G., Schumacher, F. R., Peters, U., Franceschini, N., Ritchie, M. D., et al. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001661 · Cited by 267
Genome-wide association studies in pharmacogenomics
Daly, A. K. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2751 · Cited by 264
Petrovski, S., & Goldstein, D. B. (2016) · Genome Biology · doi:10.1186/s13059-016-1016-y · Cited by 255
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Gibbs, S. F. P., Pilbrow, A. P., Poppe, K., Earle, N. J., Jones, G. T., & Faatoese, A. F. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01954-5 · Cited by 6
Gidziela, A., Ahmadzadeh, Y. I., Michelini, G., Allegrini, A. G., Agnew-Blais, J., Lau, L. Y., Duret, M., Procopio, F., Daly, E., Ronald, A., et al. (2022) · doi:10.1101/2022.02.17.22271089 · Cited by 2
Metadata
- Authors
- Popejoy, A. B., & Fullerton, S. M.
- Affiliations
- University of Washington (US)
- Corresponding author
- Popejoy, Alice B.
- Fullerton, Stephanie M.
- Venue
- Nature
- Published
- 2016-10-12
- Volume
- 538
- Issue
- 7624
- Pages
- 161-164
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5089703
- OpenAlex
- W2531587846
- Cited by
- 1,924
- References
- 13
- Citations by year
- 2026: 211 · 2025: 209 · 2024: 182 · 2023: 249 · 2022: 250 · 2021: 269 · 2020: 176 · 2019: 168 · 2018: 137 · 2017: 62 · 2016: 8
- FWCI
- 101.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institutes of Health (5p50hg003374-10)
- National Human Genome Research Institute (P50-HG003374, U01HG007307, U01HG006507)
- National Institute of General Medical Sciences (T32GM081062)
- U.S. National Library of Medicine (T15LM007442)
- Topics
- Social Sciences › Anthropology › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- population diversity, genomics, precision medicine, underrepresented groups, genetic ancestry, health disparities
- MeSH terms
- Humans, Genetic Variation, Genomics
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