The Missing Diversity in Human Genetic Studies

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

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 · see citing works

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

Genovese, G., Friedman, D. J., Ross, M. D., Lecordier, L., Uzureau, P., Freedman, B. I., Bowden, D. W., Langefeld, C. D., Oleksyk, T. K., Uscinski Knob, A. L., et al. (2010) · Science · doi:10.1126/science.1193032 · Cited by 2,028 · see citing works

Genomics is failing on diversity

Popejoy, A. B., & Fullerton, S. M. (2016) · Nature · doi:10.1038/538161a · Cited by 1,924 · see citing works

The Genetic Structure and History of Africans and African Americans

Tishkoff, S. A., Reed, F. A., Friedlaender, F. R., Ehret, C., Ranciaro, A., Froment, A., Hirbo, J. B., Awomoyi, A. A., Bodo, J.-M., Doumbo, O., et al. (2009) · Science · doi:10.1126/science.1172257 · Cited by 1,573 · see citing works

Sickle cell disease

Piel, F. B., Steinberg, M. H., & Rees, D. C. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1510865 · Cited by 1,488 · see citing works

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391 · see citing works

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics‐Guided Warfarin Dosing: 2017 Update

Johnson, J. A., Caudle, K., Gong, L., Whirl‐Carrillo, M., Stein, C., Scott, S. A., Lee, M., Gage, B. F., Kimmel, S. E., Perera, M. A., et al. (2017) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.668 · Cited by 724 · see citing works

Sickle Cell Disease.

Piel, F. B., Steinberg, M., & Rees, D. C. (2016) · Spiral (Imperial College London) · doi:10.1056/nejmc1706325#sa6 · Cited by 662 · see citing works

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H.-H., Karczewski, K. J., O’Donnell-Luria, A. H., Samocha, K. E., et al. (2017) · Nature · doi:10.1038/nature22034 · Cited by 340 · see citing works

APOL1-Associated Nephropathy: A Key Contributor to Racial Disparities in CKD

Freedman, B. I., Limou, S., Ma, L., & Kopp, J. B. (2018) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2018.06.020 · Cited by 163 · see citing works

Polygenic risk score for schizophrenia is more strongly associated with ancestry than with schizophrenia

Curtis, D. (2018) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000206 · Cited by 132 · see citing works

Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma

Mak, A. C. Y., White, M. J., Szpiech, Z. A., Eckalbar, W. L., Oh, S. S., Pino-Yanes, M. D. M., Hu, D., Goddard, P. C., Huntsman, S., Galanter, J., et al. (2018) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201712-2529oc · Cited by 129 · see citing works

Transthyretin V122I in African Americans With Congestive Heart Failure

Buxbaum, J. N., Jacobson, D. R., Tagoe, C. E., et al. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.01.042 · Cited by 93 · see citing works

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

Kilpeläinen, T. O., Bentley, A. R., Noordam, R., Sung, Y. J., Schwander, K., Winkler, T. W., Jakupović, H., Chasman, D. I., Manning, A. K., Ντάλλα, Ι., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08008-w · Cited by 92 · see citing works

Cystic fibrosis carrier frequencies in populations of African origin.

Padoa, C. J., Goldman, A., Jenkins, T., & Ramsay, M. (1999) · PubMed Central · Cited by 85 · see citing works

The rise and fall of the antimalarial Lapdap: a lesson in pharmacogenetics

Luzzatto, L. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60396-0 · Cited by 74 · see citing works

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004494 · Cited by 49 · see citing works

Cystic Fibrosis in the African Diaspora

Stewart, C., & Pepper, M. S. (2017) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201606-481fr · Cited by 42 · see citing works

“Pheno”menal value for human health

Rader, D. J., & Damrauer, S. M. (2016) · Science · doi:10.1126/science.aal4573 · Cited by 8 · see citing works

Plasma proteomic associations with genetics and health in the UK Biobank

Sun, B. B., Chiou, J., Traylor, M., Benner, C., Hsu, Y.-H., Richardson, T. G., Surendran, P., Mahajan, A., Robins, C., Vasquez-Grinnell, S. G., et al. (2023) · Nature · doi:10.1038/s41586-023-06592-6 · Cited by 1,740 · see citing works

Multimodal biomedical AI

Acosta, J. N., Falcone, G. J., Rajpurkar, P., & Topol, E. J. (2022) · Nature Medicine · doi:10.1038/s41591-022-01981-2 · Cited by 1,365 · see citing works

A roadmap to increase diversity in genomic studies

Fatumo, S., Chikowore, T., Choudhury, A., Ayub, M., Martin, A. R., & Kuchenbaecker, K. (2022) · Nature Medicine · doi:10.1038/s41591-021-01672-4 · Cited by 707 · see citing works

Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort

Qin, Y., Havulinna, A. S., Liu, Y., Jousilahti, P., Ritchie, S. C., Tokolyi, A., Sanders, J. G., Valsta, L., Brożyńska, M., Zhu, Q., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-00991-z · Cited by 586 · see citing works

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Ishigaki, K., Akiyama, M., Kanai, M., Takahashi, A., Kawakami, E., Sugishita, H., Sakaue, S., Matoba, N., Low, S.-K., Okada, Y., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0640-3 · Cited by 508 · see citing works

The Human Pangenome Project: a global resource to map genomic diversity

Wang, T., Antonacci-Fulton, L., Howe, K., Lawson, H. A., Lucas, J. K., Phillippy, A. M., Popejoy, A. B., Asri, M., Carson, C., Chaisson, M. J. P., et al. (2022) · Nature · doi:10.1038/s41586-022-04601-8 · Cited by 494 · see citing works

The sequences of 150,119 genomes in the UK Biobank

Halldorsson, B. V., Eggertsson, H. P., Moore, K. H. S., Hauswedell, H., Eiriksson, O., Ulfarsson, M. O., Palsson, G., Hardarson, M. T., Oddsson, A., Jensson, B. O., et al. (2022) · Nature · doi:10.1038/s41586-022-04965-x · Cited by 448 · see citing works

Ancient DNA analysis

Orlando, L., Allaby, R., Skoglund, P., Der Sarkissian, C., Stockhammer, P. W., Ávila-Arcos, M. C., Fu, Q., Krause, J., Willerslev, E., Stone, A. C., et al. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-020-00011-0 · Cited by 411 · see citing works

Health data poverty: an assailable barrier to equitable digital health care

Ibrahim, H., Liu, X., Zariffa, N., Morris, A. D., & Denniston, A. K. (2021) · The Lancet Digital Health · doi:10.1016/s2589-7500(20)30317-4 · Cited by 326 · see citing works

Health equity among black women in the United States

Chinn, J. J., Martin, I. K., & Redmond, N. (2021) · Journal of Women's Health · doi:10.1089/jwh.2020.8868 · Cited by 320 · see citing works

The influence of evolutionary history on human health and disease

Benton, M. L., Abraham, A., LaBella, A. L., Abbot, P., Rokas, A., & Capra, J. A. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-020-00305-9 · Cited by 291 · see citing works

The color of health: how racism, segregation, and inequality affect the health and well-being of preterm infants and their families

Beck, A. F., Edwards, E. M., Horbar, J. D., Howell, E. A., McCormick, M. C., & Pursley, D. M. (2020) · Pediatric Research · doi:10.1038/s41390-019-0513-6 · Cited by 224 · see citing works

Dementia in Africa: current evidence, knowledge gaps, and future directions

Akinyemi, R. O., Yaria, J., Ojagbemi, A., Guerchet, M., Okubadejo, N., Njamnshi, A. K., Sarfo, F. S., Akpalu, A., Ogbole, G., Ayantayo, T., et al. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12432 · Cited by 184 · see citing works

Long-Read DNA Sequencing: Recent Advances and Remaining Challenges

Warburton, P. E., & Sebra, R. P. (2023) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-101722-103045 · Cited by 163 · see citing works

Single-cell genomics meets human genetics

Cuomo, A. S. E., Nathan, A., Raychaudhuri, S., MacArthur, D. G., & Powell, J. E. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00599-5 · Cited by 124 · see citing works

Review of multi-omics data resources and integrative analysis for human brain disorders

Dong, X., Liu, C., & Dozmorov, M. (2021) · Briefings in Functional Genomics · doi:10.1093/bfgp/elab024 · Cited by 47 · see citing works

Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries

Natri, H. M., Hudjashov, G., Jacobs, G., Kusuma, P., Saag, L., Darusallam, C. C., Metspalu, M., Sudoyo, H., Cox, M. P., Gallego Romero, I., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.11.017 · Cited by 33 · see citing works

Revisiting the role of factor H in age-related macular degeneration: Insights from complement-mediated renal disease and rare genetic variants

Tzoumas, N., Hallam, D., Harris, C. L., Lako, M., Kavanagh, D., & Steel, D. H. W. (2021) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2020.10.008 · Cited by 33 · see citing works

Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations

Koller, D., Wendt, F. R., Pathak, G. A., De Lillo, A., De Angelis, F., Cabrera-Mendoza, B., Tucci, S., & Polimanti, R. (2022) · BMC Biology · doi:10.1186/s12915-022-01449-2 · Cited by 27 · see citing works

The Role of Data and Artificial Intelligence in Driving Diversity, Equity, and Inclusion

Chauhan, P. S., & Kshetri, N. (2022) · Computer · doi:10.1109/mc.2022.3149017 · Cited by 18 · see citing works

Individual and Social Genomic Contributions to Educational and Neighborhood Attainments: Geography, Selection, and Stratification in the United States

Laidley, T., Vinneau, J., & Boardman, J. (2019) · Sociological Science · doi:10.15195/v6.a22 · Cited by 11 · see citing works

Genetic and Social Determinants of Renin-Angiotensin-Aldosterone System Inhibitor-Induced Angioedema: A Precision Medicine Health Equity Study

Toda, N., Haldar, T., Teerlink, C. C., Hu, D., Danilov, P., Huntsman, S., Lu, M., Tsao, P. S., Tcheandjieu, C., Iribarren, C., et al. (2026) · doi:10.64898/2026.01.06.26343530

MSR19 Missing Patient Reported Outcome Data in Clinical Trials: An Overview and Simulation Study

McGinley, J. S., Savord, A., Chan, E. K. H., et al. (2023) · Value in Health · doi:10.1016/j.jval.2023.03.1555

Modeling Missing Data in Knowledge Space Theory

de Chiusole, D., Stefanutti, L., Anselmi, P., et al. (2013) · Padua Research Archive (University of Padova)

Modeling missing data in knowledge space theory.

de Chiusole, D., Stefanutti, L., Anselmi, P., et al. (2015) · Psychological Methods · doi:10.1037/met0000050 · Cited by 29 · see citing works

Human Relationships Inferred from Genetic Variation

Lao, Ó., & Kayser, M. (2009) · Wiley eBooks · doi:10.1002/9780470015902.a0021758

Understanding the evolution of human pigmentation: recent contributions from population genetics

Rees, J. L., & Harding, R. M. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.358 · Cited by 50 · see citing works