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Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations
Open accessAbstract
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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“Previous studies have found that population diversity may improve fine-mapping resolution38,39”
From Shared genetic architectures of educational attainment in East Asian and European populations (2024) · cites this paper as [39]
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The weirdest people in the world?
Henrich, J., Heine, S. J., & Norenzayan, A. (2010) · Behavioral and Brain Sciences · doi:10.1017/s0140525x0999152x · Cited by 12,641
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
MAGMA: Generalized Gene-Set Analysis of GWAS Data
de Leeuw, C. A., Mooij, J. M., Heskes, T., & Posthuma, D. (2015) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004219 · Cited by 3,653
Khera, A. V., Chaffin, M., Aragam, K. G., Haas, M. E., Roselli, C., Choi, S. H., Natarajan, P., Lander, E. S., Lubitz, S. A., Ellinor, P. T., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0183-z · Cited by 2,953
Clinical use of current polygenic risk scores may exacerbate health disparities
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019) · Nature Genetics · doi:10.1038/s41588-019-0379-x · Cited by 2,821
Self-citationGenomics is failing on diversity
Popejoy, A. B., & Fullerton, S. M. (2016) · Nature · doi:10.1038/538161a · Cited by 1,924
Self-citationFast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737
Analysis of polygenic risk score usage and performance in diverse human populations
Duncan, L., Shen, H., Gelaye, B., Meijsen, J., Ressler, K., Feldman, M., Peterson, R., & Domingue, B. (2019) · Nature Communications · doi:10.1038/s41467-019-11112-0 · Cited by 1,038 · cited 3×
“Genetic risk prediction attenuates with increasing divergence between the discovery and target populations, indicating that polygenic risk scores (PRSs) based on Eurocentric GWASs are not equally predictive when applied to non-European populations (Duncan et al., 2019; Martin et al., 2019).”
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Research works printed but not linked: 62
- Ahmad, 2017, Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy, Sci. Rep., 7, 6733, 10.1038/s41598-017-06905-6 · DOI
- Akinhanmi, 2018, Racial disparities in bipolar disorder treatment and research: a call to action, Bipolar Disord., 20, 506, 10.1111/bdi.12638 · DOI
- Banda, 2015, Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort, Genetics, 200, 1285, 10.1534/genetics.115.178616 · DOI
- Barbeira, 2018, Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics, Nat. Commun., 9, 1825, 10.1038/s41467-018-03621-1 · DOI · Paper page
- Barrett, 2006, Evaluating coverage of genome-wide association studies, Nat. Genet., 38, 659, 10.1038/ng1801 · DOI
- Beaton, 2017, Engaging Māori in biobanking and genomic research: a model for biobanks to guide culturally informed governance, operational, and community engagement activities, Genet. Med., 19, 345, 10.1038/gim.2016.111 · DOI
- Bigdeli, 2017, Genetic effects influencing risk for major depressive disorder in China and Europe, Transl. Psychiatry, 7, e1074, 10.1038/tp.2016.292 · DOI
- Bomba, 2017, The impact of rare and low-frequency genetic variants in common disease, Genome Biol., 18, 77, 10.1186/s13059-017-1212-4 · DOI
- Brick, 2019, Shared additive genetic variation for alcohol dependence among subjects of African and European ancestry, Addict. Biol., 24, 132, 10.1111/adb.12578 · DOI
- Brown, 2016, Transethnic Genetic-Correlation Estimates from Summary Statistics, Am. J. Hum. Genet., 99, 76, 10.1016/j.ajhg.2016.05.001 · DOI · Paper page
- Bycroft, 2018, The UK Biobank resource with deep phenotyping and genomic data, Nature, 562, 203, 10.1038/s41586-018-0579-z · DOI · Paper page
- Campbell, 2017, Using iterative learning to improve understanding during the informed consent process in a South African psychiatric genomics study, PLoS ONE, 12, e0188466, 10.1371/journal.pone.0188466 · DOI
- Claw, 2018, A framework for enhancing ethical genomic research with Indigenous communities, Nat. Commun., 9, 2957, 10.1038/s41467-018-05188-3 · DOI
- Conomos, 2018, Genome-Wide Control of Population Structure and Relatedness in Genetic Association Studies via Linear Mixed Models with Orthogonally Partitioned Structure, bioRxiv
- de Vries, 2015, The H3Africa policy framework: negotiating fairness in genomics, Trends Genet., 31, 117, 10.1016/j.tig.2014.11.004 · DOI
- Duncan, 2014, Mind the gap: why many geneticists and psychological scientists have discrepant views about gene-environment interaction (G×E) research, Am. Psychol., 69, 249, 10.1037/a0036320 · DOI
- Edenberg, 2018, Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review, Alcohol. Clin. Exp. Res., 42, 2281, 10.1111/acer.13904 · DOI
- Fiume, 2019, Federated discovery and sharing of genomic data using Beacons, Nat. Biotechnol., 37, 220, 10.1038/s41587-019-0046-x · DOI
- Galinsky, 2019, Estimating cross-population genetic correlations of causal effect sizes, Genet. Epidemiol., 43, 180, 10.1002/gepi.22173 · DOI · Paper page
- Gilly, 2018, Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits, Nat. Commun., 9, 4674, 10.1038/s41467-018-07070-8 · DOI
- Grinde, 2019, Generalizing polygenic risk scores from Europeans to Hispanics/Latinos, Genet. Epidemiol., 43, 50, 10.1002/gepi.22166 · DOI
- 2013, The Genotype-Tissue Expression (GTEx) project, Nat. Genet., 45, 580, 10.1038/ng.2653 · DOI · Paper page
- Heckerman, 2016, Linear mixed model for heritability estimation that explicitly addresses environmental variation, Proc. Natl. Acad. Sci. USA, 113, 7377, 10.1073/pnas.1510497113 · DOI
- Hellwege, 2017, Population Stratification in Genetic Association Studies, Curr. Protoc. Hum. Genet., 95, 1.22.1
- Hindorff, 2018, Prioritizing diversity in human genomics research, Nat. Rev. Genet., 19, 175, 10.1038/nrg.2017.89 · DOI · Paper page
- Hindorff, 2018, Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine, Per. Med., 15, 403, 10.2217/pme-2018-0037 · DOI · Paper page
- 2005, A haplotype map of the human genome, Nature, 437, 1299, 10.1038/nature04226 · DOI · Paper page
- Jiang, 2014, Robust rare variant association testing for quantitative traits in samples with related individuals, Genet. Epidemiol., 38, 10, 10.1002/gepi.21775 · DOI
- Kelleher, 2018, Inferring the ancestry of everyone, bioRxv
- Kendler, 2010, Interpretation of interactions: guide for the perplexed, Br. J. Psychiatry, 197, 170, 10.1192/bjp.bp.110.081331 · DOI
- Kichaev, 2015, Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies, Am. J. Hum. Genet., 97, 260, 10.1016/j.ajhg.2015.06.007 · DOI
- Kuchenbaecker, 2018, Assessing Rare Variation in Complex Traits, Methods Mol. Biol., 1793, 51, 10.1007/978-1-4939-7868-7_5 · DOI
- Lee, 2013, General framework for meta-analysis of rare variants in sequencing association studies, Am. J. Hum. Genet., 93, 42, 10.1016/j.ajhg.2013.05.010 · DOI
- Loh, 2018, Mixed-model association for biobank-scale datasets, Nat. Genet., 50, 906, 10.1038/s41588-018-0144-6 · DOI · Paper page
- Luo, 2018, Estimating heritability of complex traits in admixed populations with summary statistics, bioRxiv
- Mahajan, 2018, Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, Nat. Genet., 50, 1505, 10.1038/s41588-018-0241-6 · DOI · Paper page
- Marigorta, 2013, High trans-ethnic replicability of GWAS results implies common causal variants, PLoS Genet., 9, e1003566, 10.1371/journal.pgen.1003566 · DOI
- Márquez-Luna, 2017, Multiethnic polygenic risk scores improve risk prediction in diverse populations, Genet. Epidemiol., 41, 811, 10.1002/gepi.22083 · DOI
- Medina-Gomez, 2015, Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study, Eur. J. Epidemiol., 30, 317, 10.1007/s10654-015-9998-4 · DOI
- Mersha, 2015, Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities, Hum. Genomics, 9, 1, 10.1186/s40246-014-0023-x · DOI · Paper page
- Mills, 2019, A scientometric review of genome-wide association studies, Commun Biol, 2, 9, 10.1038/s42003-018-0261-x · DOI
- Minster, 2016, A thrifty variant in CREBRF strongly influences body mass index in Samoans, Nat. Genet., 48, 1049, 10.1038/ng.3620 · DOI
- Mulder, 2018, H3Africa: current perspectives, Pharm. Genomics Pers. Med., 11, 59
- Nelson, 2017, Imputation-Based Genomic Coverage Assessments of Current Genotyping Arrays: Illumina HumanCore, OmniExpress, Multi-Ethnic global array and sub-arrays, Global Screening Array, Omni2.5M, Omni5M, and Affymetrix UK Biobank, bioRxv
- Novembre, 2018, Tread Lightly Interpreting Polygenic Tests of Selection, Genetics, 208, 1351, 10.1534/genetics.118.300786 · DOI · Paper page
- Parker, 2016, The ethics of sustainable genomic research in Africa, Genome Biol., 17, 44, 10.1186/s13059-016-0914-3 · DOI
- Persyn, 2018, The impact of a fine-scale population stratification on rare variant association test results, PLoS ONE, 13, e0207677, 10.1371/journal.pone.0207677 · DOI
- Peterson, 2017, The Genetic Architecture of Major Depressive Disorder in Han Chinese Women, JAMA Psychiatry, 74, 162, 10.1001/jamapsychiatry.2016.3578 · DOI
- Peterson, 2017, The utility of empirically assigning ancestry groups in cross-population genetic studies of addiction, Am. J. Addict., 26, 494, 10.1111/ajad.12586 · DOI
- Petrovski, 2016, Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine, Genome Biol., 17, 157, 10.1186/s13059-016-1016-y · DOI · Paper page
- 2005, The use of racial, ethnic, and ancestral categories in human genetics research, Am. J. Hum. Genet., 77, 519, 10.1086/491747 · DOI
- Roden, 2011, Pharmacogenomics: the genetics of variable drug responses, Circulation, 123, 1661, 10.1161/CIRCULATIONAHA.109.914820 · DOI
- Schaid, 2018, From genome-wide associations to candidate causal variants by statistical fine-mapping, Nat. Rev. Genet., 19, 491, 10.1038/s41576-018-0016-z · DOI
- Simon, 2002, Understanding cross-national differences in depression prevalence, Psychol. Med., 32, 585, 10.1017/S0033291702005457 · DOI
- Sirugo, 2019, The Missing Diversity in Human Genetic Studies, Cell, 177, 26, 10.1016/j.cell.2019.02.048 · DOI · Paper page
- Sudmant, 2015, An integrated map of structural variation in 2,504 human genomes, Nature, 526, 75, 10.1038/nature15394 · DOI · Paper page
- Sul, 2018, Population structure in genetic studies: Confounding factors and mixed models, PLoS Genet., 14, e1007309, 10.1371/journal.pgen.1007309 · DOI
- Tang, 2015, Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs, Am. J. Hum. Genet., 97, 35, 10.1016/j.ajhg.2015.05.001 · DOI
- Thornton, 2012, Estimating kinship in admixed populations, Am. J. Hum. Genet., 91, 122, 10.1016/j.ajhg.2012.05.024 · DOI
- Zaitlen, 2014, Leveraging population admixture to characterize the heritability of complex traits, Nat. Genet., 46, 1356, 10.1038/ng.3139 · DOI · Paper page
- Zhang, 2015, Principal component regression and linear mixed model in association analysis of structured samples: competitors or complements?, Genet. Epidemiol., 39, 149, 10.1002/gepi.21879 · DOI
- Zhang, 2013, Adjusting for population stratification in a fine scale with principal components and sequencing data, Genet. Epidemiol., 37, 787, 10.1002/gepi.21764 · DOI
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Sorted by citations
Items 301–400 of 658
Nguyen, D. T., Nguyen, Q. H., Nguyễn, D. T., & Vo, N. S. (2022) · bioRxiv · doi:10.1101/2022.01.28.478108 · Cited by 7
“Available genomic studies have focused mainly on European descent, accounting for approximately 79% of all GWAS participants, while the overall European population comprises about 16% of the total global population (Martin et al., 2019; Peterson et al., 2019).”
BackgroundCozzoli, D., Daponte, A., Fazio, S. D., Ariano, V., Quaranta, M. R., Leone, V., Ostuni, A., Casanova, M., Catacchio, C. R., Ventura, M., et al. (2021) · Biomedicines · doi:10.3390/biomedicines9121799 · Cited by 8
Womack, S. R., Clifford, S., Wilson, M. N., Shaw, D. S., & Lemery‐Chalfant, K. (2021) · Behavior Genetics · doi:10.1007/s10519-021-10069-5 · Cited by 12
Matoba, N., & Stein, J. L. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00852-2 · Cited by 7
Peterson, R. E. (2021) · Psychiatric Annals · doi:10.3928/00485713-20210315-01 · Cited by 8
Self-citationThe intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell Symposium
Rasmussen, S. A., Abul‐Husn, N. S., Casanova, J., Daly, M. J., Rehm, H. L., & Murray, M. F. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01113-0 · Cited by 8
The state of the science in psychiatric genomics
Sullivan, P. F., & Kendler, K. S. (2021) · Psychological Medicine · doi:10.1017/s0033291720004900 · Cited by 12
“Finally, as noted in many of the reviews as well as in the PGC review in Cell (Peterson et al., 2019), we urgently require larger samples from individuals of non-European ancestry.”
ResultSelf-citationCross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD
Du, M., Yuan, H., Wu, T., Jiang, Y., Suo, C., Li, J., Zhang, T., Liu, Z., & Chen, X. (2026) · Science Advances · doi:10.1126/sciadv.aeb5665 · Cited by 7
“The diminished performance of PRSs trained in European cohorts when applied to non-European groups likely reflects differences in allele frequencies, linkage disequilibrium (LD) patterns, and GWAS sample sizes and may be further amplified by environmental and sociocultural factors ( 57 , 58 ).”
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Sessa, F., Dervišević, E., Esposito, M., Francaviglia, M., Chisari, M. G., Pomara, C., & Salerno, M. (2026) · Genes · doi:10.3390/genes17010059 · Cited by 7
“This population bias can lead to skewed or misleading results when applied in diverse forensic contexts [135] (Table 6).”
Recommendations for responsible use of population descriptors in polygenic risk score development
Smith, J. L., Adebamowo, C., Adebamowo, S. N., Darst, B. F., Fullerton, S. M., Gogarten, S. M., Hamed, M. E., Hirbo, J. B., Hysong, M. R., Johar, A., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02395-9 · Cited by 7
Self-citationFrom variants to mechanisms: Neurogenomics in the post-GWAS era
Margolis, M. P., Tang, M., Gagliardi, M., Wen, C. H., Wu, Y., Wray, N. R., Ziller, M. J., & Gandal, M. J. (2025) · Neuron · doi:10.1016/j.neuron.2025.10.014 · Cited by 14
Expanding scope of genetic studies in the era of biobanks
Dutta, D., & Chatterjee, N. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf054 · Cited by 7
Büyükgöl, F., Gürdamar, B., Aluçlu, M., Beckmann, Y., Bilguvar, K., Boz, C., Bülbül, A., Bünül, S. D., Çetin, Ö., Demir, C., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-94691-x · Cited by 6
“Investigating multi-ethnic and admixed populations is particularly crucial for detecting low-frequency variants, as these variants are more recent compared to common variants and thus exhibit greater population specificity 11 .”
Xia, C., Alliey-Rodriguez, N., Tamminga, C., Keshavan, M., Pearlson, G., Keedy, S., Clementz, B., McDowell, J., Parker, D., Lencer, R., et al. (2024) · medRxiv · doi:10.1101/2024.12.05.24318404 · Cited by 6
Self-citationThe Impact of Ancestry on Genome-Wide Association Studies
Jones, S. C., Cardone, K. M., Bradford, Y., Tishkoff, S. A., & Ritchie, M. D. (2024) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789819807024_0019 · Cited by 5
“Multi-ancestry mega-analysis GWAS or meta-analysis approaches can leverage larger sample sizes and provide insight into genetic associations shared across ancestrally diverse populations 4,15,17 .”
InfluentialStreit, F., Awasthi, S., Hall, A. S. M., Braun, A., Niarchou, M., Marouli, E., Babajide, O., Frank, J., Zillich, L., Callies, C. M., et al. (2024) · medRxiv · doi:10.1101/2024.11.12.24316957 · Cited by 6
“Furthermore, expanding the analyses to non-European ancestries is necessary to improve the understanding of the underlying genetic architecture and to facilitate the generalizability of the results 85,86 .”
Self-citationLeve, L. D., Kanamori, M., Humphreys, K. L., Jaffee, S. R., Nusslock, R., Oro, V., & Hyde, L. W. (2024) · Prevention Science · doi:10.1007/s11121-024-01720-8 · Cited by 10
“…Consortium, NIH’s All of Us Research Program), new platforms for genotyping DNA from diverse groups, and new methods for analyzing GWAS data across ancestral groups and within groups of mixed genetic ancestry (e.g., Hispanic and/or Latine participants; Atkinson et al., 2021; Peterson et al., 2019).”
Bigdeli, T. B., Barr, P. B., Rajeevan, N., Graham, D. P., Li, Y., Meyers, J. L., Gorman, B. R., Peterson, R. E., Sayward, F. G., Radhakrishnan, K., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02472-1 · Cited by 18
“This general strategy has been shown to be robust to population strati fi cation [14, 30, 31].”
Self-citationSulaieva, O., Artamonova, O., Dudin, O., Semikov, R., Urakov, D., Zakharash, Y., Kacharian, A., Strilka, V., Mykhalchuk, I., Haidamak, O., et al. (2023) · Journal of Medical Ethics · doi:10.1136/jme-2023-109129 · Cited by 5
“13 Biobanking and genetic research activities in LMICs are limited.”
BackgroundKraft, S. A., Duenas, D. M., & Shah, S. K. (2023) · BMC Medical Ethics · doi:10.1186/s12910-023-00954-5 · Cited by 12
Disentangling the complexity of psoriasis in the post-genome-wide association era
Antonatos, C., Grafanaki, K., Georgiou, S., Evangelou, E., & Vasilopoulos, Y. (2023) · Genes and Immunity · doi:10.1038/s41435-023-00222-x · Cited by 8
“1 The post-GWAS era and possible implementations of GWAS results in psoriasis. increase in the forthcoming years is expected to identify additional shared and population-speci fi c loci implicated in psoriasis pathogenesis, fostered by the development of multi-ancestry strategies [26].”
BackgroundKintu, C., Soremekun, O. S., Machipisa, T., Mayanja, R., Kalyesubula, R., Bagaya, B., Jjingo, D., Chikowore, T., & Fatumo, S. (2023) · BMC Genomics · doi:10.1186/s12864-023-09601-0 · Cited by 6
“Thus, low power due to the underlying sampling bias towards European ancestry individuals in most global consortia is still eminent [18, 19].”
BackgroundFernández-Rhodes, L. (2023) · HGG advances · doi:10.1016/j.xhgg.2023.100205 · Cited by 6
Proteome and genome integration analysis of obesity
Zhao, Q., Han, B., Xu, Q., Wang, T., Chen, F., Li, R., Zhang, L., & Pei, Y. (2023) · Chinese Medical Journal · doi:10.1097/cm9.0000000000002644 · Cited by 8
Family environment and polygenic risk in the bipolar high‐risk context
Stapp, E. K., Fullerton, J. M., Musci, R. J., Zandi, P. P., McInnis, M. G., Mitchell, P. B., Hulvershorn, L. A., Ghaziuddin, N., Roberts, G. M. P., Ferrera, A. G., et al. (2023) · JCPP Advances · doi:10.1002/jcv2.12143 · Cited by 7
“…genetics, with transferability of European‐centric GWAS findings to other populations impacted by many factors (e.g., linkage disequilibrium, allele frequencies, genetic architecture); however, there is growing effort to increase diversity in large‐scale genomics discovery (Peterson et al., 2019).”
BackgroundKovacheva, V., Eberhard, B. W., Cohen, R. Y., Maher, M., Saxena, R., & Gray, K. J. (2023) · medRxiv · doi:10.1101/2023.02.03.23285385 · Cited by 6
Dahl, A. W., Thompson, M. J., An, U., Krebs, M., Appadurai, V., Border, R., Bacanu, S., Werge, T., Flint, J., Schork, A., et al. (2023) · bioRxiv · doi:10.1101/2022.08.15.503980 · Cited by 6
“Consistent with previous studies 50–52 , we find that the PRS we derived from GWAS on European-ancestry cohorts generally had poorer portability to non-European cohorts.”
ResultLancaster, E. E., Lapato, D. M., & Peterson, R. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1022188 · Cited by 6
“However, emerging trans-ancestry methods are increasingly available and should be applied to be as inclusive as possible (see Table 1) (Peterson et al., 2019).”
BackgroundSelf-citationWang, B., Giannakopoulou, O., Austin-Zimmerman, I., Irizar, H., Harju‐Seppänen, J., Zartaloudi, E., Bhat, A., McQuillin, A., Kuchenbaecker, K. B., & Bramon, E. (2022) · Genes · doi:10.3390/genes13010106 · Cited by 8
“For heterogeneous multi-ancestry samples, joint mixed-model methods might be the optimal approach [34].”
BackgroundMethodThomaier, L., Darst, B. F., Jewett, P. I., Hoffmann, C., Brown, K., Makaram, A., Argenta, P., Teoh, D., Blaes, A., & Vogel, R. (2021) · Gynecologic Oncology · doi:10.1016/s0090-8258(21)00750-2 · Cited by 6
Gene-Environment Effects on Female FertilityPreprint
Barban, N., Cao, E. D., & Francesconi, M. (2021) · SSRN Electronic Journal · doi:10.2139/ssrn.3938650 · Cited by 4
“Finally, expanding the analysis to populations of non-European descent will allow us to ascertain the generalizability of our results to other ethnic groups (Peterson et al., 2019).”
BackgroundTosato, S., Ristic, B., Zanini, A., Schimmenti, S., Maselli, F. M. C., & Vassos, E. (2025) · Epidemiology and Psychiatric Sciences · doi:10.1017/s204579602510022x · Cited by 4
Self-citationSun, R., Li, S., Yang, C., Huang, G., Tang, C., Li, W., Xia, Z., Zuo, M., Yang, N., Luo, H., et al. (2025) · MedComm · doi:10.1002/mco2.70302 · Cited by 3
“Population-specific genetic architectures can influence genetic associations, potentially limiting the direct transferability of genetic findings across ancestries [50, 51].”
Self-citationYang, Y.-H., & Zhu, X.-F. (2025) · bioRxiv · doi:10.1101/2025.07.11.664423 · Cited by 5
“While inappropriately conducted MR analysis can lead to spurious heterogeneity in causal ef-82 fects across ancestries, genuine heterogeneity does exist due to differences in environmental and cultural factors, such as dietary habits, climate, and lifestyle (Peterson et al., 2019).”
Andreu-Bernabeu, Á., González‐Peñas, J., Perdiguero, A. M., Bernardo, M., Mezquida, G., Amoretti, S., Bobes, J., Sáiz, P. A., García‐Portilla, M. P., Sanjuán, J., et al. (2025) · The British Journal of Psychiatry · doi:10.1192/bjp.2025.100 · Cited by 5
“50 Future models should also incorporate a wider range of risk factors, focusing on critical time windows and the complexities of subjective, long-lasting experiences.”
Methodological opportunities in genomic data analysis to advance health equity
Lehmann, B., Bräuninger, L., Cho, Y., Falck, F., Jayadeva, S., Katell, M. A., Nguyen, T., Perini, A., Tallman, S., Mackintosh, M. E., et al. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00839-w · Cited by 7
“In a diverse sample, applying these metrics without accounting for population structure may lead to variants and samples being incorrectly flagged as errors or outliers, particularly from under-represented groups 23 .”
Genome‐Wide Association Study Reveals Genetic Architecture of Common Epilepsies
Thakran, S., Guin, D., Singh, P., Uppili, B., Ramachandran, S., Kushwaha, S. S., & Kukreti, R. (2025) · Clinical Genetics · doi:10.1111/cge.14710 · Cited by 5
Icick, R., Shadrin, A. A., Holen, B., Karadag, N., Parker, N., O’Connell, K. S., Frei, O., Bahrami, S., Høegh, M. C., Lagerberg, T. V., et al. (2025) · Nature Mental Health · doi:10.1038/s44220-024-00353-8 · Cited by 6
“Likewise, including samples from multiple ancestries by meta-analysis may improve GWAS ability to detect and infer causality and biological relevance of associated genetic variants 14 —including for AUD 6,7 .”
Self-citationHorwitz, T. B., Zorina-Lichtenwalter, K., Gustavson, D. E., Grotzinger, A. D., & Stallings, M. C. (2024) · Behavior Genetics · doi:10.1007/s10519-024-10188-9 · Cited by 4
“…were comprised of individuals of European ancestry, as different genetic ancestry groups may have different patterns of linkage disequilibrium and allele frequencies (Peterson et al. 2019) and analyses looking at non-European ancestry groups are under-powered for some of the indicators of interest.”
Friligkou, E., Løkhammer, S., Cabrera‐Mendoza, B., Shen, J., He, J., Deiana, G. A., Zanoaga, M. D., Asgel, Z., Pilcher, A., Lascio, L. D., et al. (2024) · medRxiv · doi:10.1101/2024.02.14.24302836 · Cited by 8
Stein, M. B., Jain, S., Papini, S., Campbell‐Sills, L., Choi, K. W., Martis, B., Sun, X., He, F., Ware, E. B., Naifeh, J. A., et al. (2024) · Journal of Affective Disorders · doi:10.1016/j.jad.2024.01.254 · Cited by 7
“Lastly, our analyses focused solely on individuals of European ancestry (Peterson et al., 2019), given the known limitations of extending PRS from European to other ancestral groups.”
BackgroundMethodSelf-citationFujihara, C., Hafiyyah, O. A., & Murakami, S. (2023) · Japanese Dental Science Review · doi:10.1016/j.jdsr.2023.09.001 · Cited by 9
“In addition to disease-related variants, different racial and ethnic groups may have distinct genetic variations that influence disease susceptibility and treatment responses [54].”
BackgroundLife is pain: Fibromyalgia as a nexus of multiple liability distributions
Moscati, A., Faucon, A. B., Arnaiz, C., Lönn, S. L., Sundquist, J., Sundquist, K., Belbin, G. M., Nadkarni, G. N., Cho, J. H., Loos, R. J. F., et al. (2023) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32949 · Cited by 4
“…predicting the same trait, in samples from distinct continental populations as the genetic distance between the discovery and test populations reduces accuracy in the polygenic associations (Peterson et al., 2019), and can also unpredictably produce biases in any direction (Martin et al., 2017).”
BackgroundOsman, W. M., Mousa, M., Albreiki, M. S., Baalfaqih, Z., Daggag, H., Hill, C., McKnight, A. J., Maxwell, A. P., & AlSafar, H. S. (2023) · Scientific Reports · doi:10.1038/s41598-023-31701-w · Cited by 6
Genetic nurture in educational attainment
Cawley, J., Han, E., Kim, J., & Norton, E. C. (2023) · Economics & Human Biology · doi:10.1016/j.ehb.2023.101239 · Cited by 8
Mann, F. D., Clouston, S., Cuevas, A. G., Waszczuk, M. A., Kuan, P. F., Carr, M. A., Docherty, A. R., Shabalin, A. A., Gandy, S., & Luft, B. J. (2023) · Journal of Alzheimer s Disease · doi:10.3233/jad-220892 · Cited by 7
Polygenic scores for psychiatric disorders in a diverse postmortem brain tissue cohort
Duncan, L. E., Shen, H., Schulmann, A., Li, T., Kolachana, B. S., Mandal, A., Feng, N., Auluck, P. K., & Marenco, S. (2023) · Neuropsychopharmacology · doi:10.1038/s41386-022-01524-w · Cited by 6
“The most critical consideration for use of the polygenic scores is ancestry given that polygenic scores are oftentimes highly correlated with ancestry, and therefore spurious findings may be generated if ancestry is not adjusted for correctly in analyses [36].”
BackgroundSelf-citationXavier, R. M., Shanavas, Y., Britt, B. M., & George, W. T. (2023) · PLoS ONE · doi:10.1371/journal.pone.0284356 · Cited by 6
“Despite concerted efforts (such as through policy initiatives by the NIH), this underrepresentation continues to widen [2, 39, 40].”
BackgroundThe molecular genetic landscape of human brain size variation
Seidlitz, J., Mallard, T., Vogel, J., Lee, Y., Warrier, V., Ball, G., Hansson, O., Hernandez, L., Mandal, A., Wagstyl, K., et al. (2022) · bioRxiv · doi:10.1101/2022.11.03.514996 · Cited by 5
Self-citationBountress, K. E., Bustamante, D., de Viteri, S. S., Chatzinakos, C., Sheerin, C. M., Daskalakis, N. P., Edenberg, H. J., Peterson, R. E., Webb, B. T., Meyers, J., et al. (2022) · Psychological Medicine · doi:10.1017/s0033291722002999 · Cited by 7
“…whether findings are consistent between those of European Ancestry (EA) and African Ancestry (AA) individuals – the latter of which is particularly important given the lack of diversity in genomic studies (Bentley, Callier, & Rotimi, 2017; Peterson et al., 2019; Sirugo, Williams, & Tishkoff, 2019).”
Self-citationThoughtful Phenotype Definitions Empower Participants and Power Studies
Huckins, L. M. (2022) · Complex Psychiatry · doi:10.1159/000527022 · Cited by 3
Rare schizophrenia risk variant burden is conserved in diverse human populationsPreprint
Liu, D.-J., Meyer, D., Fennessy, B., Feng, C., Cheng, E., Johnson, J. S., Park, Y. J., Rieder, M., Ascolillo, S., de Pins, A., et al. (2022) · medRxiv · doi:10.1101/2022.01.03.22268662 · Cited by 5
“Studies of mental illness have contributed to this disparity with almost exclusive European GWAS cohorts despite roughly equal prevalence of psychiatric disorders worldwide 17 .”
BackgroundSelf-citationCoto-Vílchez, C., Martínez-Magaña, J. J., Mora-Villalobos, L., Valerio, D., Genis-Mendoza, A. D., Silverman, J. M., Nicolini, H., Raventós, H., & Chavarria-Soley, G. (2021) · CNS Spectrums · doi:10.1017/s109285292100105x · Cited by 5
“Besides, there is increasing recognition of the value of studying ancestrally diverse populations, and Latin American populations have been historically underrepresented in large-scale genomic and epigenomic studies.(74,75)”
BackgroundPerspective on Beyond Statistical Significance: Finding Meaningful Effects
Edenberg, H. J. (2021) · Complex Psychiatry · doi:10.1159/000517237 · Cited by 7
Self-citationZhong, H., Magee, M., Huang, Y.-F., Hui, Q., Gwinn, M., Gandhi, N., & Sun, Y. V. (2020) · Open Forum Infectious Diseases · doi:10.1093/ofid/ofaa106 · Cited by 5
Multi-ancestry GWAS of age-related hearing loss identifies 140 loci and key cellular mechanisms
Shi, L., He, H., Li, J., Gai, K., Li, W., Zhao, Y., Yuan, H., & Wu, Y. (2026) · Nature Communications · doi:10.1038/s41467-026-69894-z · Cited by 3
Ancestral diversity in complex disease genetics: from discovery to translation
Kuchenbaecker, K. B., & Navoly, G. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-025-00921-3 · Cited by 6
Self-citationXu, S., Yu, K., Liu, L., Wang, Q., Wu, X., Chen, Y., Li, G., Zhang, X., Wei, B., Fu, Z., et al. (2025) · Advanced Science · doi:10.1002/advs.202513086 · Cited by 4
Jamil, B., Su, J.-N., Elam, K. K., Lemery-Chalfant, K., Cruz, R. A., Grimm, K. J., & Seaton, E. K. (2025) · Development and Psychopathology · doi:10.1017/s0954579425101028 · Cited by 4
“Previous research shows that the effectiveness and reliability of PGS are primarily influenced by the statistical power and sample size of the discovery GWAS, as well as the ancestral similarities between the target and discovery samples (Martin et al., 2019; Peterson et al., 2019).”
Self-citationSyed, M., Walter, C., & Meyer, H. V. (2025) · bioRxiv · doi:10.1101/2025.11.25.690541 · Cited by 4
“For cohorts composed of multiple ances-tries, PCs can be used to define and divide cohorts into ancestry-specific subgroups for independent analyses and potential meta-analyses (Price et al. 2006, Peterson et al. 2019).”
Bucheeri, S., Alcibahy, Y., Bucheeri, Y., Bucheeri, S., Alhermi, A., & Butler, A. E. (2025) · Cells · doi:10.3390/cells14221769 · Cited by 8
“In addition, ethnic diversity remains underrepresented, with most data derived from East Asian and European populations [92–94].”
Rivier, C., Xu, L.-Q., Clocchiatti-Tuozzo, S., Zhao, H.-Y., Ohno-Machado, L., Hafler, D., Falcone, G., & Longbrake, E. (2025) · Multiple Sclerosis · doi:10.1177/13524585251377607 · Cited by 4
“8 This raises the possibility that there is less applicability and accuracy of GRS in individuals of non-Euro-pean ancestries, potentially leading to disparities in disease prediction and prevention efforts.”
Echoes of Inequity: A Critical Examination of the Past, Present, and Future of Cardiac Health Equity
Awoyemi, T., Mutebi, C., Youmans, Q. R., Okwuosa, I. S., Yancy, C. W., & Ositelu, K. C. (2025) · Current Cardiology Reports · doi:10.1007/s11886-025-02275-y · Cited by 6
“There have been over 250 loci linked to CAD identified through genome-wide association studies (GWAS), with more being discovered using multi-ancestry GWAS uncovering novel loci in diverse populations [79, 80].”
Obesity-related brain atrophy is independent of Alzheimer's disease protein pathways
Morys, F., Liu, L., Senkevich, K. A., Gan‐Or, Z., & Dagher, A. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251359680 · Cited by 3
“82,83 Prior to exclusions, our sample included only 2.6% percent of individuals of other ethnicities, which was not enough to conduct desired, disag-gregated analyses.”
InfluentialPoudel, A., Phogat, S., Roy, J., Saini, M. R., Shivaprasad, K., Madhavan, J., Chinnusamy, V., Vinod, K. K., Sevanthi, A., & Mandal, P. (2025) · Zeitschrift für Induktive Abstammungs- und Vererbungslehre · doi:10.1007/s00438-025-02249-3 · Cited by 4
“Diversity of the association panel is very important for the success of a GWAS study (Peterson et al. 2019).”
Lo, Y.-C., Tian, H., Chan, T. F., Jeon, S., Alatorre, K., Dinh, B. L., Maskarinec, G., Taparra, K., Nakatsuka, N. J., Yu, M., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-08050-7 · Cited by 4
“However, available GWAS data are heavily biased towards European-ancestry individuals 13,14 , posing a challenge for PGS due to its poor transferability between populations.”
Self-citationMeena, D., Huang, J. V., Zare, M., Hasbani, N. R., Boua, P. R., Mustafa, R., van der Laan, S. W., Xu, H., Terry, J. G., Bis, J. C., et al. (2025) · medRxiv · doi:10.1101/2025.04.11.25325582 · Cited by 3
“Second, the identification of 12 additional loci associated with cIMT from the multi-ancestry meta-analysis emphasises the importance of aggregating GWAS results from diverse populations to increase sample size and statistical power which is in line with previous research 19 .”
Striving Towards Equity in Cardiovascular Genomics Research
Vélez, J. A. J., Anderson, N., Datcher, I., Foster, C., Jackson, P., & Hidalgo, B. (2025) · Current Atherosclerosis Reports · doi:10.1007/s11883-025-01277-z · Cited by 4
“However, the patient population for GWAS studies consists of 78–91% of patients from European ancestry, lacking an inclusive representation of underrepresented communities [7–9].”
Kuang, A., Hivert, M., Hayes, M. G., Lowe, W. L., & Scholtens, D. M. (2025) · BMC Genomics · doi:10.1186/s12864-025-11229-1 · Cited by 6
Descriptor: Synthetic Genomic Dataset With Diverse Ancestry (SynGen6)
Wang, X., Min, S., & Vaidya, J. S. (2024) · IEEE data descriptions. · doi:10.1109/ieeedata.2024.3505852 · Cited by 2
Ramirez-Diaz, A. M., Díaz‐Zuluaga, A. M., Stroud, R. E., Vreeker, A., Bitta, M. A., Ivankovic, F., Wootton, O., Whiteman, C., Mountcastle, H., Jha, S. C., et al. (2024) · medRxiv · doi:10.1101/2024.10.02.24314732 · Cited by 3
Self-citationZhuang, F., Gutman, D., Islas, N., Guzmán, B. B., Jimenez, A., Jewell, S., Hand, N. J., Nathanson, K. L., Dominguez, D., & Barash, Y. (2025) · Nature Communications · doi:10.1038/s41467-025-65020-7 · Cited by 6
Improving genetic risk modeling of dementia from real-world data in underrepresented populations
Fu, M., Valiente‐Banuet, L., Wadhwa, S. S., UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working Group, Paşaniuc, B., Vossel, K. A., & Chang, T. S. (2024) · Communications Biology · doi:10.1038/s42003-024-06742-0 · Cited by 4
Step, K., Sima, C. A. A. N., Mata, I. F., & Bardien, S. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1380860 · Cited by 8
Genetic Researchers’ Use of and Interest in Research With Diverse Ancestral Groups
Jaffe, K., Greene, A. K., Chen, L., Ryan, K. A., Krenz, C. D., Roberts, J. S., Zikmund‐Fisher, B. J., McGuire, A. L., Thomas, J. D., Marsh, E. E., et al. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2024.6805 · Cited by 6
Martinez, K. L., Klein, A., Martin, J. R., Sampson, C. U., Giles, J. B., Beck, M. L., Bhakta, K., Quatraro, G., Farol, J., & Karnes, J. H. (2024) · medRxiv · doi:10.1101/2024.02.21.24302372
Improving genetic risk modeling of dementia from real-world data in underrepresented populations
Fu, M.-Z., Valiente-Banuet, L., Wadhwa, S. S., Pasaniuc, B., Vossel, K., & Chang, T. S. (2024) · medRxiv · doi:10.1101/2024.02.05.24302355 · Cited by 4
Progress and Implications from Genetic Studies of Bipolar Disorder
Kong, L., Chen, Y., Shen, Y., Zhang, D., Chen, W., Lai, J., & Hu, S. (2024) · Neuroscience Bulletin · doi:10.1007/s12264-023-01169-9 · Cited by 6
“…with abnormalities in nodal network measures in structures within the limbic system, especially the left hippocampus, the bilateral isthmus of the cingulate [113, 114], the corpus callosum [115], and the lateral occipital cortex [116], but the exact genetic mechanisms remain to be elucidated.”
Functional genomics and small molecules in mitochondrial neurodevelopmental disorders
Calame, D. G., & Emrick, L. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00316 · Cited by 11
“As common variant studies have concentrated in Europe and the United States due to global inequities, remaining common variant studies must concentrate on the Global South and other understudied populations [110].”
BackgroundKe, M.-H., Bao, B., Ke, Z., Ma, W., Guo, J., Zhang, L., Wen, H., Ma, L.-R., Fan, G., & Liu, B. (2023) · Endocrine · doi:10.1007/s12020-023-03653-8 · Cited by 4
“This provides a more robust and reliable dataset for MR analysis due to the larger sample size and reduced heterogeneity [47].”
Bebo, A., Jarmul, J. A., Pletcher, M., Hasbani, N. R., Couper, D., Nambi, V., Ballantyne, C., Fornage, M., Morrison, A., Avery, C., et al. (2023) · PLoS ONE · doi:10.1371/journal.pone.0285259 · Cited by 4
Human Genetic Variation in F3 and Its Impact on Tissue Factor–Dependent Disease
Park, J. K., Brake, M. A., & Schulman, S. (2023) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-0043-1769079 · Cited by 5
“71”
Kim, D., Song, J., Mancuso, N., Mangul, S., Ahn, C. W., Jang, W., & Jang, W. (2024) · Arthritis Research & Therapy · doi:10.1186/s13075-024-03280-2 · Cited by 7
“This creates a critical gap in our understanding of complex traits across diverse populations [138].”
BackgroundGenetic variants associated with post-traumatic stress symptoms in patients with gynecologic cancer
Johnson, A. M., Teoh, D. G. K., Jewett, P. I., Darst, B. F., Mattson, J. N., Hoffmann, C., Brown, K., Makaram, A., Keller, C., Blaes, A. H., et al. (2023) · Gynecologic Oncology · doi:10.1016/j.ygyno.2023.01.006 · Cited by 6
Understanding Anhedonia from a Genomic Perspective
Bondy, E., & Bogdan, R. (2022) · Current topics in behavioral neurosciences · doi:10.1007/7854_2021_293 · Cited by 9
Genetic and Social-Environmental Influences on Substance Use and Disorders
Meyers, J. L., & Salvatore, J. E. (2021) · Psychiatric Annals · doi:10.3928/00485713-20210311-02 · Cited by 4
Self-citationBrick, L. A. D., Benca‐Bachman, C. E., Bertin, L., Martin, K. P., Risner, V., & Palmer, R. H. C. (2021) · Addiction · doi:10.1111/add.15476 · Cited by 4
Self-citationGeographic patterns of human allele frequency variation: a variant-centric perspective
Biddanda, A., Rice, D. P., & Novembre, J. (2020) · bioRxiv · doi:10.1101/2020.07.01.182311 · Cited by 4
“Most importantly, future applications of the approach will ideally use datasets that include a greater sampling of the world’s genetic diversity (Bustamante, Burchard, and De la Vega 2011; Popejoy and Fullerton 2016; Martin et al. 2017; Peterson et al. 2019).”
BackgroundACLY and CKD: A Mendelian Randomization Analysis
Mohammadi‐Shemirani, P., Chong, M., Perrot, N., Pigeyre, M., Steinberg, G. R., Paré, G., Krepinsky, J. C., & Lanktree, M. B. (2022) · Kidney International Reports · doi:10.1016/j.ekir.2022.04.013 · Cited by 9
“The eQTLGen, CKDGen, and UK Biobank data available are primarily of White European ancestry, and improving the ancestral diversity of genomic studies is a recognized ethical and scientific imperative.(31) We tested variants associated with ACLY expression in the blood, which is likely an imperfect proxy for ACLY expre…”
Hollowell, A., Gui, A., Wigdor, E. M., MORGAN, M., Hannigan, L. J., Corfield, E. C., Pool, R., Bruins, S., Ask, H., Middeldorp, C. M., et al. (2026) · Nature Human Behaviour · doi:10.1038/s41562-026-02486-5 · Cited by 3
“Past GWAS have mostly been conducted in European-ancestry samples due to data availability 95 .”
A comparison of deep multiomics profiles across ethnicity, geography, and age
Bararpour, N., Cao, J. Z., Wu, Y., Gupta, S., Hoopmann, M. R., Qin, R., Midha, M. K., Mireault, M., Juanes‐Velasco, P., Hanson, C. R., et al. (2026) · Cell · doi:10.1016/j.cell.2026.04.032 · Cited by 3
Su, H., Wang, T., & Chen, C. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1797221 · Cited by 3
“…of non-European populations in current datasets raises additional concern that AI systems may perform unevenly across demographic groups, thereby exacerbating existing inequities in precision oncology (Carter et al., 2020; Murdoch, 2021; Peterson et al., 2019; Martin et al., 2019).”
Self-citationYang, Y., & Zhu, X. (2026) · Genome biology · doi:10.1186/s13059-026-04051-9 · Cited by 2
“While improperly conducted MR analyses may yield spurious heterogeneity in causal effects across ancestries, genuine heterogeneity can also arise from environmental and cultural differences, such as diet, climate, and lifestyle [23].”
Black EquaLity in OCD NeuroGenomics ( BELONG ): Study Protocol
Williams, I. J., Márquez., D. Y. P., Lopez-Lengowski, K., Bommiasamy, M., Onyeka, O. “., Underwood, S. J., Avery, J. E., Gluckman, J., Pichardo, T., Chandler, R., et al. (2026) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmgb.70002 · Cited by 3
“Most large-scale genomic discoveries are heavily biased toward individuals of European ancestry (EUR), despite the fact that EUR populations only make up 16% of the global population, potentially exacerbating existing health disparities (Martin et al. 2019; Peterson et al. 2019).”
Changes in polygenic burden for psychiatric disorders across two decades of birth cohorts
Lousdal, M. L., LaBianca, S., Agerbo, E., Albiñana, C., Vilhjálmsson, B. J., McGrath, J. J., Schork, A. J., & Plana‐Ripoll, O. (2025) · Nature Mental Health · doi:10.1038/s44220-025-00478-4 · Cited by 2
“As PGSs have lower prediction accuracy in other ancestries, large diverse discovery cohorts are needed to fully characterize PGS changes over time 30,31 .”
Shen, X., Toenders, Y. J., Han, L. K. M., Weihs, A., Alexander, N., Andlauer, T. F. M., Brosch, K., Forstner, A. J., Grotegerd, D., Hahn, T., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03136-4 · Cited by 8
Genetic and epigenetic landscape of erectile dysfunction: a comprehensive review
Ajayi, A. F., Olateju, B. S., Aremu, T. V., Ayodele, A. H., & Akano, O. P. (2025) · Gene · doi:10.1016/j.gene.2025.149716 · Cited by 3
Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer
DeBortoli, E., McGahan, E., Yanes, T., Berkman, J. L., Aoude, L. G., Smit, A. K., Gokoolparsadh, A., Hermes, A., Newett, L., Bourke, M., et al. (2025) · Cancer Medicine · doi:10.1002/cam4.71080 · Cited by 4
“Of note, not all populations are well represented in clinical databases, which compromises the sensitivity of identifying and actioning genomic cancer variants in diverse ancestral groups [165, 166].”
SNP associations in the L-citrulline metabolic pathway and vascular aging in the Japanese population
Nogimura, D., Moriyasu, K., Ishida, S., Kohda, M., Yazawa, T., & Morita, M. (2025) · PLoS ONE · doi:10.1371/journal.pone.0323778 · Cited by 3
“Because GWAS results are not always replicated in other populations or races [55], future validation in different populations and races is needed to better ensure the association between the identified SNPs and the symptoms related to vascular aging toward generalizing applicability.”
Onyenobi, E., Zhong, M., Soremekun, O. S., Kamiza, A. B., Boua, P. R., Chikowore, T., Fatumo, S., Choudhury, A., Hazelhurst, S., Adebamowo, C., et al. (2025) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.124.005048 · Cited by 3
“16 Continental African populations not only encompass a rich genetic diversity, 17 but also experience distinct environmental and social factors that vary widely across regions in Africa.”
Metadata
- 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
- Peterson, Roseann E.
- Kuchenbaecker, Karoline
- Walters, Raymond K.
- Chen, Chia-Yen
- Popejoy, Alice B.
- Periyasamy, Sathish
- Lam, Max
- Iyegbe, Conrad
- Strawbridge, Rona J.
- Brick, Leslie
- Carey, Caitlin E.
- Martin, Alicia R.
- Meyers, Jacquelyn L.
- Su, Jinni
- Chen, Junfang
- Edwards, Alexis C.
- Kalungi, Allan
- Koen, Nastassja
- Majara, Lerato
- Schwarz, Emanuel
- Smoller, Jordan W.
- Stahl, Eli A.
- Sullivan, Patrick F.
- Vassos, Evangelos
- Mowry, Bryan
- Prieto, Miguel L.
- Bigdeli, Tim B.
- Edenberg, Howard J.
- Huang, Hailiang
- Duncan, Laramie E.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2019-10
- Volume
- 179
- Issue
- 3
- Pages
- 589-603
- ISSN
- 0092-8674 (ISSN-L)
- 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
- hybrid
- doi.org
- 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
- Social Sciences › Anthropology › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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