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Cited by 797Genetic Associations and EpidemiologyRace, Genetics, and SocietyForensic and Genetic Research

Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations

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Peterson, Roseann E., Kuchenbaecker, Karoline, Walters, Raymond K., Chen, Chia-Yen, Popejoy, Alice B., Periyasamy, Sathish, Lam, Max, Iyegbe, Conrad +23 more·2019·Cell
DOI 10.1016/j.cell.2019.08.051PMC PMC6939869
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Abstract

Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.

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Authors
Peterson, R. E., Kuchenbaecker, K., Walters, R. K., Chen, C.-Y., Popejoy, A. B., Periyasamy, S., Lam, M., Iyegbe, C., Strawbridge, R. J., Brick, L., Carey, C. E., Martin, A. R., Meyers, J. L., Su, J., Chen, J., Edwards, A. C., Kalungi, A., Koen, N., Majara, L., Schwarz, E., Smoller, J. W., Stahl, E. A., Sullivan, P. F., Vassos, E., Mowry, B., Prieto, M. L., Cuellar-Barboza, A., Bigdeli, T. B., Edenberg, H. J., Huang, H., & Duncan, L. E.
Affiliations
  • Virginia Commonwealth University (US)
  • University College London (GB)
  • Broad Institute (US)
  • Stanford Medicine (US)
  • The University of Queensland (AU)
  • King's College London (GB)
  • Karolinska Institutet (SE)
  • Brown University (US)
  • SUNY Downstate Health Sciences University (US)
  • Arizona State University (US)
  • Heidelberg University (DE)
  • Massachusetts General Hospital (US)
  • Icahn School of Medicine at Mount Sinai (US)
  • University of North Carolina at Chapel Hill (US)
  • Mayo Clinic (US)
  • Indiana University School of Medicine (US)
Corresponding author
Peterson, Roseann E.
ORCID
Venue
Cell
Publisher
Elsevier BV
Published
2019-10
Volume
179
Issue
3
Pages
589-603
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/j.cell.2019.08.051
PMC
PMC6939869
OpenAlex
W2970480306
Cited by
797
References
89
Citations by year
2026: 110 · 2025: 134 · 2024: 153 · 2023: 158 · 2022: 117 · 2021: 82 · 2020: 41 · 2019: 2
FWCI
8.08
Type
journal article
Language
en
Open access
Licence
Locations
  • Cell (publishedVersion, other-oa)
  • PubMed (publishedVersion)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion, cc-by-sa)
  • PubMed Central (acceptedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • Research Portal (King's College London) (submittedVersion)
  • SUNY Digital Repository Support (State University of New York System) (submittedVersion, cc-by-nc-nd)
  • IUScholarWorks (Indiana University) (submittedVersion)
Funders
  • Vetenskapsrådet (D0886501)
  • UK Research and Innovation (MR/S003061/1, K99MH117229)
  • National Alliance for Research on Schizophrenia and Depression (22604)
  • National Institutes of Health (K01 MH113848, MH109532, MH109536, MH109539, U01 MH109528, MH109501, MH109514, MH109499)
  • European Commission
  • Horizon 2020
  • Royal Irish Academy (610307)
  • Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University
  • Wellcome Trust (212360/Z/18/Z, 5U01MH109539)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Keywords
genome-wide association study, population diversity, admixed populations, genetic ancestry, genetic architecture, methodological considerations, underrepresented groups, genetic research ethics
MeSH terms
Data Accuracy, Human Genetics, Genetics, Population, Humans, Pedigree, Genetic Variation, Genome-Wide Association Study, Genotyping Techniques

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