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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, 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., Cuellar-Barboza, Alfredo, Bigdeli, Tim B., Edenberg, Howard J., Huang, Hailiang, Duncan, Laramie E.·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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Cross-ancestry genetic discovery for hippocampal volumetric traits
(2023) · Nature Genetics · doi:10.1038/s41588-023-01427-6 · Cited by 1
A scoping review of smoking cessation pharmacogenetic studies to advance future research across racial, ethnic, and ancestral populations
Prom-Wormley, E., Wells, J., Landes, L., Edmondson, A. N., Sankoh, M., Jamieson, B., Delk, K. J., Surya, S., Bhati, S., & Clifford, J. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1103966 · Cited by 1
“Classification of these categories vary as a function of the statistical methods and global reference groups used to categorize study sample participants (Peterson et al., 2019).”
BackgroundInfluential
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic AncestryPreprint
Mavura, Y., Sahin‐Hodoglugil, N., Hodoğlugil, U., Kvale, M. N., Martin, P.-M., Ziffle, J. V., Devine, W. P., Ackerman, S., Koenig, B. A., Kwok, P., et al. (2023) · medRxiv · doi:10.1101/2023.05.19.23290066
“2,3,14 However, the clinical context is important in evaluating the association of race/ethnicity or genetic ancestry with diagnostic yield.”
Genetic data visualization using literature text-based neural networks: Examples associated with myocardial infarction
Moon, J.-H., Posada-Quintero, H. F., & Chon, K. H. (2023) · Neural Networks · doi:10.1016/j.neunet.2023.05.015 · Cited by 2
Polygenic risk associations with developmental and mental health outcomes in childhood and adolescence: A systematic reviewPreprint
Moyakhe, L., Dalvie, S., Mufford, M., Stein, D., & Koen, N. (2023) · medRxiv · doi:10.1101/2023.03.31.23287877 · Cited by 1
Self-citation
Polygenic prediction of bipolar disorder in a Latin American sample
Barboza, A. B. C., Prieto, M. L., Coombes, B. J., Gardea‐Resendez, M., Núñez, N. A., Winham, S. J., Romo‐Nava, F., González, S., McElroy, S. L., Frye, M. A., et al. (2023) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32936 · Cited by 1
Self-citation
Genetics of Diabetic Kidney Disease in Type 2 Diabetes: Candidate Gene Studies and Genome-Wide Association Studies (GWAS)
Yogaprabhu, S., Bodhini, D., Sneha, J., Anjana, R., Mohan, V., & Radha, V. (2023) · Journal of the Indian Institute of Science · doi:10.1007/s41745-023-00401-9 · Cited by 1
Study protocol of DIVERGE, the first genetic epidemiological study of major depressive disorder in Pakistan
Valkovskaya, M., Hassan, A., Zartaloudi, E., Hussain, F., Umar, M., Khizar, B., Khattak, I., Gill, S. A., Khan, S.-U.-D. A., Dogar, I. A., et al. (2022) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000333 · Cited by 3
“, 2018), the vast majority of participants were of European descent (Peterson et al., 2019).”
Self-citation
Polygenic risk scores adaptation for Height in a Vietnamese population
Tran, T. T. H., Tran, M. H., Dương, N. T., Pham, T. M., Vu, G. M., Vo, N. S., Nguyen, N. N., & Vu, Q. T. (2022) · International Conference on Knowledge and Systems Engineering/Proceedings · doi:10.1109/kse56063.2022.9953620 · Cited by 2
“Most of the public genome-wide association study (GWAS) data has been conducted in the European population [13], [18].”
Background
Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study
Kipkemoi, P., Kim, H., Christ, B., O'Heir, E., Allen, J., Austin-Tse, C., Baxter, S., Brand, H., Bryant, S., Buser, N., et al. (2022) · medRxiv · doi:10.1101/2022.08.22.22278891 · Cited by 1
“People of African ancestry have been grossly underrepresented in genetic studies, across domains and disciplines.(29,30) In aggregate, this is most visible through the constitution of large genetic databases like gnomAD, in which only 14% of individuals (N ≈ 27,000) have some African ancestry (31,32).”
Background
Intersectionality and genetic ancestry: New methods to solve old problems
Vera, C. D., Mullen, M., Minhas, N., & Wu, J. C. (2022) · EBioMedicine · doi:10.1016/j.ebiom.2022.104049 · Cited by 1
The Need for Inclusive Genomic Research
Krishnan, N., & Ingles, J. (2022) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.122.003736 · Cited by 1
Evaluation of height as a disease risk factor through a phenome-wide association study of genetically-predicted height
Raghavan, S., Huang, J., Tcheandjieu, C., Huffman, J., Litkowski, E., Ho, Y., Hunter-Zinck, H. S., Zhao, H.-Y., Marouli, E., North, K., et al. (2021) · medRxiv · doi:10.1101/2021.08.29.21262793 · Cited by 1
Multiancestry conditional and joint analysis applied to GWAS summary statistics
Wang, X., Wang, Y., Yang, J., Visscher, P. M., Wray, N. R., & Yengo, L. (2026) · Nature Genetics · doi:10.1038/s41588-026-02799-1 · Cited by 1
Multifaceted role of genetic and epigenetic architecture of glucose homeostasis and diabetes
Khokhar, M. (2026) · npj Metabolic Health and Disease · doi:10.1038/s44324-026-00135-z
“ThepersistentEurocentricbiasofbothGWAS and functional genomic studies means that a disproportionate fraction of discoveredassociationsandmechanisticinsightsderivefrompopulationsof European descent, limiting generalisability 130,131,133 .”
The impact of diabetes on formal and informal care
Gousia, K., Nizalova, O. Y., Mališauskaitė, G., & Teo, H. (2026) · Social Science & Medicine · doi:10.1016/j.socscimed.2026.119955
Genetic evidence for the psychosis continuum: polygenic score analysis
Haussler, S. M., Prata, D. P., Kempton, M. J., Bhavsar, V., Arathimos, R., Coleman, J. R. I., Valmaggia, L., Tognin, S., Modinos, G., Fusar‐Poli, P., et al. (2026) · The British Journal of Psychiatry · doi:10.1192/bjp.2026.10795
Self-citation
Association of the major depressive disorder-associated locus rs12415800 with bipolar disorder in a Taiwan Biobank–NHIRD linked cohort
Liu, M., Chen, K.-C., Liao, D., Chen, M., Kuo, P., & Tsai, S. (2026) · BJPsych Open · doi:10.1192/bjo.2026.12114
“8 In this context, a landmark GWAS conducted in Han Chinese populations identified a single nucleotide polymorphism (SNP), rs12415800, located near the Sirtuin 1 (SIRT1) gene on chromosome 10, as one of the first GWAS significant risk variants for MDD. 9 Notably, the risk allele (A) frequency of…”
FGF-23 is associated with increased risk of abdominal aortic calcification
Song, L., Chen, J., Xue, C., Song, C., Zhu, J.-H., & Xu, D.-L. (2026) · Medicine · doi:10.1097/md.0000000000050966
“[41,42] Second, because both the phosphate and AAC GWAS datasets were derived from UK Biobank-related resources, potential sample overlap between the mediator and outcome datasets could not be fully excluded.”
Self-citation
From Collection to Collaboration: Building Ethical Frameworks for Genetic Research
Madden, D. A., Dusic, E., Rios, I. E., Zayhowski, K., Tantay, L. J., Sinnott-Armstrong, N., Aguayo-Romero, R. A., Rabinowitz, S., Ramos, M. A., Baker, K. E., et al. (2026) · Behavioral Medicine · doi:10.1080/08964289.2026.2633346
“(P29)” One participant suggested that research could create professional opportunities to build skills for TNGD people, encouraging cisgender researchers particularly to mentor and hire TNGD individuals: “W hether or not I”
Historical Perspective and Clinical Implementation of Pharmacogenomics (PGx) Technology with Clinical Decision Support (CDS) in Child and Adolescent Psychiatry
Cella, R., Bian, H., Luo, A., Alfakhri, B., Malik, S., Malik, S., & Ruaño, G. (2026) · Pharmaceuticals · doi:10.3390/ph19101554
“Over 78% of participants in genome-wide association studies (GWAS) are of European descent, with 71.8% recruited from just three countries: the United States, the United Kingdom, and Iceland [40].”
Influential
Revealing genetic foundations underlying cardiometabolic traits: integrating twin and GWAS data in Asian populations.
Hong, X., Li, M., Cao, W.-H., Lv, J., Yu, C., Huang, T., Sun, D., Liao, C., Pang, Y., Hu, R., et al. (2026) · International Journal of Obesity · doi:10.1038/s41366-026-02209-w
Population-Specific Pharmacogenetic Variants Associated with Chemotherapy Response in the Bulgarian Population
Miteva-Marcheva, N. N., Ivanov, H., Sotkova-Ivanova, I., Boyanov, N., & Stoyanova, V. (2026) · Pharmaceuticals · doi:10.3390/ph19101504
“Consequently, genetic profiles characteristic of Eastern European populations, including Bulgarians, are underrepresented, which may limit the applicability of pharmacogenetic data from global datasets to Eastern European populations [5].”
Common alleles associated with connectivity within and across the brain’s main functional networks
Caseras, X., Chambers, T., Hall, L., Pardiñas, A., Murphy, K., & Anney, R. (2026) · Nature Communications · doi:10.1038/s41467-026-77476-2
“We also aimed to ensure compatibility with procedures for GWAS downstream analyses, which require accurate estimates of LD that often rely on single-population reference panels 52 .”
Harnessing multi-omics, genome editing and AI-enabled high-throughput phenotyping for forest tree improvement
Mian, A., Nawaz, N., Hassan, M., Naeem, M., Rios-Escalante, P. R. D. L., & Zhang, Y. (2026) · Current Plant Biology · doi:10.1016/j.cpb.2026.100672
Genotype-by-regional ancestry proxy interactions at 8q24 reveal association heterogeneity in prostate cancer risk
Kim, G. J. (2026) · Cancer Genetics · doi:10.1016/j.cancergen.2026.09.008
Genetics of type 2 diabetes: Beyond single nucleotide variant studies
Moya-Valera, C., Gallardo-Espinoza, M. D. J., Arita, A. F., Lara-Hernández, F., Quiroz-Rodríguez, M. E., Abellán, R., Garcia-Garcia, A.-B., & Chaves, F. J. (2026) · Molecular Metabolism · doi:10.1016/j.molmet.2026.102449
“In this way, the main reference datasets have limitations in the representation of different populations, particularly in African, Native American, and certain Asian populations [53,98,99].”
Cross-ancestry and cross-disorder transferability of polygenic risk scores for obsessive-compulsive disorder
Park, C., Kim, J., Myung, W., Jung, S.-H., Kim, B., Park, S., Kang, J.-I., Won, H.-H., & Kim, S. J. (2026) · Translational Psychiatry · doi:10.1038/s41398-026-04395-7
Empowering AI assisted clinical drug development: tactics to address data bias, the digital divide and missing patient populations through AI and digital solutions
Papanicolaou, D., Perdikeas, S., & Jones, G. B. (2026) · Frontiers in Digital Health · doi:10.3389/fdgth.2026.1880641
“As examples, a large proportion of genomic data is derived from persons of European ancestry whereas Hispanic, Asian, African and mixed race individuals are under-represented (Figure 1) (10 – 12).”
TLS-Tractor: A transfer learning framework for incorporating summary-statistics into local ancestry-aware GWAS in admixed populations
Lu, W.-X., Zhao, R., & Chatterjee, N. (2026) · medRxiv · doi:10.64898/2026.08.04.26359626
“Given the substantial presence of admixed individuals in many countries [16, 17, 18], their underrepresentation in genetic studies[19], and their dispropor-36 tionate burden of common diseases [20, 21, 22], a robust inclusion of these populations in GWAS is essential to advance genetic discovery…”
For better and for worse: Evidence of differential susceptibility to environmental adversity in youth substance use from the cVEDA cohort
Bajpai, A., Holla, B., Sharma, E., Mahadevan, J., Shankarappa, B. M., Dahiya, N., Purushottam, M., Viswanath, B., Jain, S., & Benegal, V. (2026) · Asian Journal of Psychiatry · doi:10.1016/j.ajp.2026.105116
Clinical-genetic predisposition and medium-term outcomes after bariatric surgery: A 5-year validation of the OBEGEN score
Zorzano-Martínez, M., SWITZER-RODRIGUEZ, A., Bueno, M., Herrerías, F., Caixàs, A., Luna, A., Ciudin, A., Petrola, C., Vilarrasa, N., Lazzara, C., et al. (2026) · Obesity Pillars · doi:10.1016/j.obpill.2026.100318
“Finally, the cohort was predominantly of European ancestry and did not include patient-reported outcomes such as quality of life or satisfaction, which may limit generalizability and clinical contextualization [42,43].”
Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa
Hansen, M. E. B., Hazra, U., Kim, M., Raj, S. M., Fan, S., Beggs, W. R., Mpoloka, S. W., Mokone, G. G., Nyambo, T., Meskel, D. W., et al. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.07.006 · Cited by 1
Evaluation of dopamine transporter gene variations in Turkish children with attention deficit hyperactivity disorder treated with methylphenidate adverse effects.
Pekkoc-Uyanik, K. C., Bayındır, M., Akdemir, M. F., Okuyan, A. A., Tarakçıoğlu, M., Ozyazgan, S., & Seven, Z. G. T. (2026) · Pharmacogenomics (London) · doi:10.1080/14622416.2026.2706504
Exploring the use of machine and deep learning in genome-wide association studies: a comprehensive review
D’Antona, S., Abakar, M. E. A., Ramazzotti, D., Antoniotti, M., & Graudenzi, A. (2026) · BioData Mining · doi:10.1186/s13040-026-00584-8
“…are historically Eurocentric (with 86.3% representation of the total number of studies up to 2019), efforts have been made in recent years to investigate individuals with ethnically diverse ancestry, and to identify differences in terms of genetic architecture between different populations [173].”
Influential
Extending genome-wide association studies to admixed cohorts with high degrees of relatedness
Tan, T., Vergara-Lope, A., Martínez‐Magaña, J. J., Shah, N. N., Lin, Y.-S., Yuan, K., Berumen-Campos, J., Alegre-Díaz, J., Kuri-Morales, P. A., Tapia‐Conyer, R., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02689-6 · Cited by 2
“…contribute to this issue, but even when data exist, admixed individuals have historically been excluded due to the scarcity of methods and pipelines that effectively account for admixture, largely due to the concern of raised false positive discoveries stemming from population structure 10–15 .”
Genome-wide association and polygenic risk score analyses of MASLD-related hepatic steatosis severity in a Taiwanese Han population
Liu, T.-Y., Yang, J.-S., Chen, Y.-C., Tsai, S.-C., Chiu, Y.-J., Liao, C.-C., Chang, Y.-T., Shyu, W.-C., Jeng, L., & Tsai, F.-J. (2026) · Cell & Bioscience · doi:10.1186/s13578-026-01619-7
“Despite the rapidly increasing prevalence of MASLD throughout Asia, East Asian populations remain underrepresented in current GWAS datasets [25].”
Identification of hub genes involved in early-onset schizophrenia: from genetic susceptibility to predicted regulated gene expression
Jen, Y., Yu, S., Hsiao, P., Kuo, P., Liu, C., Liu, C., Hwang, T., Hsieh, M. H., Chien, Y., Lin, Y.-T., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03731-z
“1 (Illumina, San Diego, CA), containing 588,628 SNPs. Standard QC procedures were applied [41] (see Supplementary Methods).”
Self-citation
Bridging ancestry gaps in genomic risk prediction with tabular foundation models
Das, A., & Cui, Y. (2026) · Bioinformatics · doi:10.1093/bioinformatics/btag217 · Cited by 1
“Human genetic variation is continuous and structured by admixture and fine-scale population history, yet many prediction pipe-lines rely on coarse ancestry labels (Peterson et al. 2019).”
Association Analysis of HLA-DPA1 Polymorphisms with Thyroid Diseases in a Korean Cohort
Kim, G., & Kim, E.-J. (2026) · Korean Journal of Clinical Laboratory Science · doi:10.15324/kjcls.2026.58.2.185
Primary Open-Angle Glaucoma among Black and Latinx Populations: Exploring Racial Disparities in the United States
Sheibani, K., Francis, B., Francis, N., Wilson, M. R., & Nassiri, N. (2026) · Journal of Racial and Ethnic Health Disparities · doi:10.1007/s40615-026-03044-5
Association of specific GSK3β (rs334558, rs6438552) and GNB3 (rs5443) polymorphisms with major depressive disorder: a meta-analysis
Kalidasan, Y., Kantipudi, S. J., Ramachandran, I., & Venkatesan, V. (2026) · The Egyptian Journal of Neurology Psychiatry and Neurosurgery · doi:10.1186/s41983-026-01185-2
“…may act as a context-dependent modifier rather than a universal genetic risk factor for MDD, as evidenced by the inconsistent results across populations, which may be due to variations in environmental exposures, clinical features, sample sizes, or interactions with other genetic pathways [25].”
Dissecting the immune–metabolic axis in appendicitis: A Mendelian randomization mediation study
Zheng, H., Wang, K., & Wang, D. (2026) · Medicine · doi:10.1097/md.0000000000049284
Polygenic risk factors for comorbid diagnoses in individuals with substance use disorders: A phenome-wide survival analysis
Barr, P. B., Neale, Z. E., Bigdeli, T. B., Chatzinakos, C., Harvey, P. D., Peterson, R. E., & Meyers, J. L. (2026) · Psychological Medicine · doi:10.1017/s003329172610470x · Cited by 1
“Informed by best practices for handling genetic data from diverse populations (Peterson et al., 2019), we stratified analyses by genetic similarity and included genetic principal components, which limit the possibility of false positives due to population stratification.”
Self-citation
Genetic Evaluation Practices in Living Kidney Donor Candidates
Çalişkan, Y., Oto, O., Alhamad, T., Yazıcı, H., Velioğlu, A., Yildiz, A., Radunović, D., Garg, N., Kousios, A., Ural, Z., et al. (2026) · Kidney International Reports · doi:10.1016/j.ekir.2026.106665
Genetic variants associated with triglyceride metabolism and fasting triglyceride concentrations: a systematic review and a meta-analysis
Nuwaylati, D. A., Mensink, R. P., Joris, P. J., Coort, S. L., & Plat, J. (2026) · Journal of clinical lipidology · doi:10.1016/j.jacl.2026.06.019
Student–teacher relationships as a mediator of children's education‐linked genetics: results from the Norwegian Mother, Father and Child Cohort Study
Austerberry, C., Corfield, E. C., Havdahl, A., Smajlagić, D., Brandlistuen, R. E., Wang, M. V., Fish, L. A., Bernardi, M., van de Grint, J., Bekkhus, M., et al. (2026) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.70179
“Most GWAS to date have been conducted in European ancestry samples (Peterson et al., 2019), limiting their broader applicability.”
Genetic Risk and Resilience for Schizophrenia Stratified by Perinatal Gene Expression Predict Adult Cognitive Performance
Kikidis, G., Raio, A., Sportelli, L., Antonucci, L., Bertolino, A., Rampino, A., Selvaggi, P., Weinberger, D. R., & Pergola, G. (2026) · bioRxiv · doi:10.64898/2026.05.19.726222
“Individuals of African ancestry are underrepresented in psychiatric genomics despite their greater genetic diversity and specific linkage disequilibrium patterns, which provide both challenges and unique opportunities for discovering novel biology [48-50].”
ICAM-1 enigma in diabetic retinopathy: How population genetics challenges a universal pathogenesis model
Liu, Z.-Y., Song, L., Yue, Z.-R., Huo, S.-Y., & Xu, F.-J. (2026) · World Journal of Diabetes · doi:10.4239/wjd.v17.i5.116585
Characterizing the Uncertainty, Misclassification and Inconsistency of Polygenic Prediction
Zhang, Y.-Z., Zhang, R., & Ge, T. (2026) · medRxiv · doi:10.64898/2026.05.11.26352897
A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network
Díaz‐Zuluaga, A. M., Anderberg, J. L., Ramirez-Diaz, A. M., Marques, A. H., Rast, C. E., Bustamante, D., Jonker, D., Valencia‐Echeverry, J., Kyebuzibwa, J., Muñoz, J. S., et al. (2026) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.70019
Genetic architecture of multiple myeloma: From somatic alterations to germline susceptibility and clinical implications
Carretero-Fernández, M., Cabrera-Serrano, A. J., Ruiz-Durán, L., Ibáñez, M., Bonilla, M., Mesa, F., Gutiérrez‐Bautista, J. F., Chahboun, R., Reyes‐Zurita, F. J., Martínez‐López, J., et al. (2026) · Translational Oncology · doi:10.1016/j.tranon.2026.102796
“Addressing these challenges will require larger multi-ancestry cohorts, integrative multi-omic approaches, functional validation of candidate loci, and standardized analytical frameworks to improve robustness, biological interpretation, and clinical applicability [62,85,86].”
The Multiethnic Cohort: A Resource for the Study of Genetic and Nongenetic Cancer Risk across Populations
Bogumil, D. D., Sheng, X., Wan, P. C., Xia, L. Y., Pooler, L., Cheng, I. C., Streicher, S. A., Huang, B. Z., Chen, F., Stram, D. O., et al. (2026) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-25-1458 · Cited by 4
“Due to the lack of diversity in genomics research and limited data to use in joint models, current risk prediction methods may lead to an exacerbation of health disparities (1–6).”
Identification of new overlapping and disease-specific genetic risk factors for rheumatoid arthritis and radiographic axial spondyloarthritis: a meta-analysis of three large European populations and functional characterization
Cabrera-Serrano, A. J., Carretero-Fernández, M., Pérez-Rojo, B., ter Horst, R., Cañadas‐Garre, M., Canhão, H. M., Quartuccio, L., Sørensen, S. B., Glintborg, B., Filipescu, I., et al. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1637735
Global trajectories of polygenic risk score research: a systematic bibliometric review of precision medicine, equity, and clinical translation
Bitar, F., Zareef, R. O., Abou-Karam, R., Nemer, G. M., Bitar, F. F., Fahed, A. C., & Sater, Z. A. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2026.1779659
Growth Trajectories of Suicide Ideation and Attempt in a Population-Based Cohort from the United States
Lannoy, S., Barr, P. B., Gillespie, N. A., Stephenson, M. E., & Edwards, A. C. (2026) · Archives of Suicide Research · doi:10.1080/13811118.2026.2648604
“Here, we follow best practices for current approaches to handling genetic data from diverse populations (Peterson et al., 2019) in order to limit the possibility of false positives due to population stratification (presence of a systematic difference in allele frequencies) and variation in linkage…”
Self-citation
Development and Assessment of Tailored Illustrations to Enhance Community Understandings of Genetics Topics
Arner, A. M., McCabe, T. C., Seyler, A., Zamri, S. N., Huat, T. B. T. A. T. B., Tam, K. L., Kinyua, P., John, E., Njeru, S., Lim, Y. A. L., et al. (2026) · bioRxiv · doi:10.64898/2026.03.17.711941
“…of diverse sampling is widely recognized as crucial for robust understanding of both evolutionary processes and the genetic architecture of complex traits and diseases [5,6], and is essential to both address health disparities and maximize the reach of benefits from downstream discoveries [7].”
Role of Polygenic Risk Scores in Predicting Cognitive Functioning after Mild Traumatic Brain Injury: A TRACK-TBI Study
Nelson, L. D., Simons, M. U., Jain, S., Sun, X., Choi, K. W., Temkin, N. R., Diaz-Arrastia, R. R., Gardner, R. C., Taylor, S. R., Manley, G. T., et al. (2026) · Journal of Neurotrauma · doi:10.1177/08977151261432398 · Cited by 1
Advancing models of PTSD–AUD comorbidity: protocol for a multimethod framework using genetics and ecological momentary assessment
Stinson, E. A., Lellapalli, S., Hawn, S. E., Merrill, N. A., Rappaport, L. M., Sheerin, C. M., Michopoulos, V., Bacanu, S., Peterson, R. E., Powers, A. D., et al. (2026) · European Journal of Psychotraumatology · doi:10.1080/20008066.2026.2635214
Self-citation
Disentangling the relationship between psychiatric disorders, cardiometabolic abnormalities, and antipsychotics: A systematic review of genomic studies.
Shepherd, R. A., Stacey, D., Janetzki, J., Clark, S., Hyppönen, E., & Suppiah, V. (2026) · Schizophrenia Research · doi:10.1016/j.schres.2026.02.014
Participant ascertainment is differentially related to phenotypic characteristics and alcohol‐related genetic liability in a sample with severe alcohol use disorder
Edwards, A. C., Passero, K., Eglovitch, M., Polak, K., Parlier‐Ahmad, A. B., Ngjelina, E., Stephenson, M. E., Lannoy, S., Svikis, D. S., & Kendler, K. S. (2026) · Alcoholism Clinical and Experimental Research · doi:10.1111/acer.70276
“Improving the represen-tativeness of participants in genetic analyses is an ongoing challenge in the field for both biological and ethical reasons (Peterson et al., 2019 ).”
Self-citation
Estimating population structure using epigenome-wide methylation data
Wang, Z., Taylor, K., Rotter, J., Rich, S. S., Zheng, Y.-N., Hou, L., Guo, X.-Q., Bressler, J., Raffield, L., Liu, Y.-M., et al. (2026) · Briefings in Bioinformatics · doi:10.1093/bib/bbag142
A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models
Chen, K., Chen, S., Dias, R., & Torkamani, A. (2026) · BMC Bioinformatics · doi:10.1186/s12859-025-06184-3
“Understanding population stratification is crucial for capturing genetic traits and reducing confounding effects in GWAS [55–57].”
Pharmacogenomics-Guided therapeutics in type 2 diabetes: Mechanisms, drug Targets, and precision medicine perspectives
Singh, P., Tripathy, D. B., & Kumar, G. (2026) · Journal of Diabetes & Metabolic Disorders · doi:10.1007/s40200-025-01843-x · Cited by 1
Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets
Yao, W.-T., Fan, J., Lu, J., Guo, H., Yu, C., Wang, X., Wang, Y., Zhang, Y., Duan, Q., Cheng, L., et al. (2026) · Genome Medicine · doi:10.1186/s13073-026-01606-0
“To further quantify whether ancestry diversity improved fine-mapping resolution as suggested by prior studies [12, 69], we performed analysis with identical parameters only in the EUR population (Fig.”
Shared genetic architecture of psychoactive substance use and pan-cancer: insights from a large‑scale genome‑wide cross‑trait analysis
Song, J., Li, P., Canis, M., Unger, K., Haas, N. A., & Gires, O. (2026) · BMC Medicine · doi:10.1186/s12916-026-04677-3
“The genetic architecture of illnesses and their linkage depend on genetic ancestry, which is not covered in an unbiased manner in current GWAS, as studies include mostly individuals of European ancestry [92, 159, 160].”
Genomic Justice as Reproductive Justice: Universal Coverage for Preimplantation Genetic Testing for Hereditary Breast and Ovarian Cancer Syndrome
Pleasant, V. A., Slocum, B., & Purkiss, A. (2026) · Technology in Cancer Research and Treatment · doi:10.1177/15330338261427326
“37,38 While it is possible that a person with a VUS result may miss a window to bene ﬁ t from PGT-M if the VUS is later upgraded after fetal conception, the reality is that the majority of VUS are later downgraded to benign/likely benign.”
Decoding Cholesterol Metabolic Regulation by Naotai Formula in Stroke Management: An Integrated Network Pharmacology and Mendelian Randomization Approach
Jiang, H., Gao, C., Wang, D., Tian, H., & Zhu, B. (2026) · Assay and Drug Development Technologies · doi:10.1177/1540658x261415762
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“However, GWAS have been predominantly conducted in individuals of European descent; despite increased efforts to include diverse populations in genomic studies, individuals of African ancestry represent less than 4% of all GWAS participants [6,7].”
Functional ADAM12 variants modulate proteolytic activity and influence metabolic traits
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Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors
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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: 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)
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: hybrid
doi.org
Licence: other-oa
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 382 d)
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

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

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