Successes of genome-wide association studies

Complement factor H polymorphism in age-related macular degeneration

Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492 · see citing works

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013 · see citing works

Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?

Neel, J. V. (1962) · Europe PMC (PubMed Central) · Cited by 3,147 · see citing works

Genetic Heterogeneity in Human Disease

McClellan, J., & King, M.-C. (2010) · Cell · doi:10.1016/j.cell.2010.03.032 · Cited by 981 · see citing works

Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes

Gudmundsson, J., Sulem, P., Steinthorsdottir, V., Bergthorsson, J. T., Thorleifsson, G., Manolescu, A., Rafnar, T., Gudbjartsson, D., Agnarsson, B. A., Baker, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2062 · Cited by 723 · see citing works

A map of open chromatin in human pancreatic islets

Gaulton, K. J., Nammo, T., Pasquali, L., Simon, J. M., Giresi, P. G., Fogarty, M. P., Panhuis, T. M., Mieczkowski, P. A., Secchi, A., Bosco, D., et al. (2010) · Nature Genetics · doi:10.1038/ng.530 · Cited by 530 · see citing works

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

Landi, M. T., Chatterjee, N., Yu, K. F., Goldin, L. R., Goldstein, A. M., Rotunno, M., Mirabello, L. J., Jacobs, K. B., Wheeler, W., Yeager, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.003 · Cited by 496 · see citing works

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

Landi, M. T., Chatterjee, N., Yu, K. F., Goldin, L. R., Goldstein, A. M., Rotunno, M., Mirabello, L. J., Jacobs, K. B., Wheeler, W., Yeager, M., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.012 · Cited by 495 · see citing works

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

Visel, A., Zhu, Y., May, D., Afzal, V., Gong, E., Attanasio, C., Blow, M. J., Cohen, J. C., Rubin, E. M., & Pennacchio, L. A. (2010) · Nature · doi:10.1038/nature08801 · Cited by 461 · see citing works

A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms

Kilpivaara, O., Mukherjee, S., Schram, A. M., Wadleigh, M., Mullally, A., Ebert, B. L., Bass, A. J., Marubayashi, S., Heguy, A., Garcia‐Manero, G., et al. (2009) · Nature Genetics · doi:10.1038/ng.342 · Cited by 349 · see citing works

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

Wang, K., Baldassano, R. N., Zhang, H., Qu, H., Imielinski, M. B., Kugathasan, S., Annese, V., Dubinsky, M. C., Rotter, J. I., Russell, R. K., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq078 · Cited by 184 · see citing works

Benefits and limitations of genome-wide association studies

Tam, V., Patel, N. K., Turcotte, M., Bossé, Y., Paré, G., & Meyre, D. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0127-1 · Cited by 2,092 · see citing works

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

Griswold, A. J., Ma, D., Cukier, H. N., Nations, L. D., Schmidt, M. A., Chung, R.-H., Jaworski, J. M., Salyakina, D., Konidari, I., Whitehead, P. L., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds164 · Cited by 180 · see citing works

Sex differences in the genetic architecture of depression

Kang, H., Park, Y., Yoo, K.-H., Kim, K. T., Kim, E.-S., Kim, J.-W., Kim, S., Shin, I., Yoon, J., Kim, J. H., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-66672-9 · Cited by 89 · see citing works

ZEB2 Shapes the Epigenetic Landscape of Atherosclerosis

Cheng, P. P., Wirka, R. C., Clarke, S. L., Zhao, Q., Kundu, R. K., Nguyen, T., Nair, S., Sharma, D., Kim, H.-J., Shi, H., et al. (2022) · Circulation · doi:10.1161/circulationaha.121.057789 · Cited by 75 · see citing works

A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes

Lee, Y., Lai, C., Ordovás, J. M., & Parnell, L. D. (2011) · Journal of Data Mining in Genomics & Proteomics · doi:10.4172/2153-0602.1000106 · Cited by 67 · see citing works

Current understanding of human genetics and genetic analysis of psoriasis

Oka, A., Mabuchi, T., OZAWA, A., & Inoko, H. (2012) · The Journal of Dermatology · doi:10.1111/j.1346-8138.2012.01504.x · Cited by 62 · see citing works

The Genetics of Autism Spectrum Disorders – A Guide for Clinicians

Heil, K. M., & Schaaf, C. P. (2012) · Current Psychiatry Reports · doi:10.1007/s11920-012-0334-3 · Cited by 62 · see citing works

Cancer evolution and individual susceptibility

Pérez‐Losada, J., Castellanos‐Martín, A., & Mao, J. (2011) · Integrative Biology · doi:10.1039/c0ib00094a · Cited by 48 · see citing works

Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome

Maiorino, E., Baek, S. H., Guo, F., Zhou, X., Kothari, P. H., Silverman, E. K., Barabási, A.-Ĺ., Weiss, S. T., Raby, B. A., & Sharma, A. (2020) · Nature Communications · doi:10.1038/s41467-020-14600-w · Cited by 39 · see citing works

Recessive/dominant model: Alternative choice in case-control-based genome-wide association studies

Liu, H.-M., Zheng, J.-P., Yang, D., Liu, Z.-F., Li, Z., Hu, Z.-Z., & Li, Z.-N. (2021) · PLoS ONE · doi:10.1371/journal.pone.0254947 · Cited by 36 · see citing works

Sequencing-based genome-wide association studies reporting standards

McMahon, A., Lewis, E., Buniello, A., Cerezo, M., Hall, P., Sollis, E., Parkinson, H., Hindorff, L. A., Harris, L. W., & MacArthur, J. A. L. (2021) · Cell Genomics · doi:10.1016/j.xgen.2021.100005 · Cited by 28 · see citing works

Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations

Lu, H., Wang, T., Zhang, J., Zhang, S., Huang, S., & Zeng, P. (2021) · Human Genetics · doi:10.1007/s00439-021-02299-8 · Cited by 21 · see citing works

Genetic architecture reconciles linkage and association studies of complex traits

Sidorenko, J., Couvy‐Duchesne, B., Kemper, K. E., Moen, G.-H., Bhatta, L., Åsvold, B. O., Mägi, R., Ani, A., Wang, R., Nolte, I. M., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01940-2 · Cited by 20 · see citing works

What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis?

Vasilopoulou, C., Morris, A. P., Giannakopoulos, G., Duguez, S., & Duddy, W. J. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm10040247 · Cited by 19 · see citing works

Variants on Chromosome 6p22.3 Associated With Blood Pressure in the HyperGEN Study: Follow-Up of FBPP Quantitative Trait Loci

Simino, J. M., Shi, G., Arnett, D. K., Broeckel, U., Hunt, S. C., & Rao, D. C. (2011) · American Journal of Hypertension · doi:10.1038/ajh.2011.140 · Cited by 17 · see citing works

Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2

Fan, Y., Wolford, B. N., Lu, H., Liang, W., Sun, J., Zhou, W., Rom, O., Mahajan, A., Surakka, I. L., Graham, S. E., et al. (2021) · iScience · doi:10.1016/j.isci.2021.103196 · Cited by 16 · see citing works

Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing

Li, S., Yan, B., Li, T. K. T., Lu, J., Gu, Y., Tan, Y., Gong, F., Lam, T., Xie, P., Wang, Y., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01158-7 · Cited by 13 · see citing works

Association of mental health with the risk of coronary artery disease in patients with diabetes: A mendelian randomization study

Hu, T., Yang, F., He, K., Ying, J., & Cui, H. (2022) · Nutrition Metabolism and Cardiovascular Diseases · doi:10.1016/j.numecd.2022.01.004 · Cited by 12 · see citing works

A comprehensive comparison of multilocus association methods with summary statistics in genome-wide association studies

Shao, Z., Wang, T., Qiao, J., Zhang, Y., Huang, S., & Zeng, P. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04897-3 · Cited by 12 · see citing works

Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa

Jurj, M.-A., Buse, M., Zimța, A., Paradiso, A., Korban, S. S., Pop, L., & Berindan‐Neagoe, I. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21165835 · Cited by 11 · see citing works

Nicotine Motivated Behavior in C. elegans

Salim, C., Batsaikhan, E., Kan, A. K., Chen, H., & Jee, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25031634 · Cited by 10 · see citing works

Natural variation of the holobiont for sustainable agroecosystems

Weckwerth, W., Chaturvedi, P., Ghatak, A., Kerou, M., Garg, V., Bohra, A., Subbarao, G. V., Stein, L. Y., Schleper, C., Varshney, R. K., et al. (2025) · Trends in Plant Science · doi:10.1016/j.tplants.2025.05.006 · Cited by 10 · see citing works

Give GWAS a Chance

Meyre, D. (2017) · Diabetes · doi:10.2337/dbi17-0026 · Cited by 9 · see citing works

A current snapshot of common genomic variants contribution in psychiatric disorders

Santoro, M. L., Moretti, P. N. S., Pellegrino, R., Gadelha, A., Abílio, V. C., Hayashi, M. A. F., Belangero, S. I., & Hakonarson, H. H. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32475 · Cited by 7 · see citing works

Importance of GWAS in finding un-targeted genetic association of sporadic Alzheimer’s disease

Bagaria, J., Nho, K. T., & An, S. S. A. (2021) · Molecular & Cellular Toxicology · doi:10.1007/s13273-021-00130-z · Cited by 7 · see citing works

Functional Genomics in Psoriasis

Rossi, S., Richards, E., Orozco, G., & Eyre, S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25137349 · Cited by 6 · see citing works

Genetic Etiology of Autism

Cristina, A., Lúiza, A., & Pereira-Nascimento, P. (2013) · InTech eBooks · doi:10.5772/53106 · Cited by 5 · see citing works

Genome-Wide Gene-Set Analysis Approaches in Amyotrophic Lateral Sclerosis

Vasilopoulou, C., Duguez, S., & Duddy, W. J. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12111932 · Cited by 2 · see citing works

An Alzheimer’s disease gene prediction method based on ensemble of genome-wide association study summary statistics

Song, J., Lin, C., & Li, H. (2022) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm55620.2022.9995296 · Cited by 2 · see citing works

Genome Tools and Methods

Barrera, D. J., & Sebat, J. L. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800105-9.00004-4 · Cited by 1 · see citing works

Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era

Balcells, S., Martínez‐Gil, N., Patiño-Salazar, J. D., Rabionet, R., & Grinberg, D. (2023) · Revista de Osteoporosis y Metabolismo Mineral · doi:10.20960/revosteoporosmetabminer.00008 · Cited by 1 · see citing works

Genetic Markers in Predicting Three Common Vascular Diseases

Fisher, S., Trivett, C., Zhou, M., Graham, D., & McBride, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15512-3.00055-6 · Cited by 1 · see citing works

Gene expression and genetic association in bipolar disorder

Sears, C. (2012) · Otago University Research Archive (University of Otago) · Cited by 1 · see citing works

A conserved role of α2δ subunit of calcium channel in nicotine motivated behaviorPreprint

Salim, C., Batsaikhan, E., Kan, A. K., Chen, H., & Jee, C. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.21.497113

Additional file 1 of Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing

Li, S., Yan, B., Li, T. K. T., Lu, J., Gu, Y., Tan, Y., Gong, F., Lam, T., Xie, P., Wang, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22598653

Basic research

Amrute, J., & Kopecky, B. J. (2025) · Elsevier eBooks · doi:10.1016/b978-0-323-91790-2.00073-3

Additional file 3 of Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing

Li, S., Yan, B., Li, T. K. T., Lu, J., Gu, Y., Tan, Y., Gong, F., Lam, T., Xie, P., Wang, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22598659

Additional file 2 of A comprehensive comparison of multilocus association methods with summary statistics in genome-wide association studies

Shao, Z., Wang, T., Qiao, J., Zhang, Y., Shuiping, H., & Zeng, P. (2022) · Figshare · doi:10.6084/m9.figshare.20745267

Additional file 1 of A comprehensive comparison of multilocus association methods with summary statistics in genome-wide association studies

Shao, Z., Wang, T., Qiao, J., Zhang, Y., Shuiping, H., & Zeng, P. (2022) · Figshare · doi:10.6084/m9.figshare.20745264

Additional file 2 of Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing

Li, S., Yan, B., Li, T. K. T., Lu, J., Gu, Y., Tan, Y., Gong, F., Lam, T., Xie, P., Wang, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22598656

Modeling of linkage disequilibrium in whole genome genetic association studies

Johnson, R. (2014) · HAL · doi:10.70675/077a2830z02f9z4591za4e5z254e19208d13

Genome-Wide Association Studies (GWAS)

Ayan, H. N. U., & Tariq, M. (2022) · BENTHAM SCIENCE PUBLISHERS eBooks · doi:10.2174/9789815079517122010008 · Cited by 1 · see citing works

REVIEW Genome-wide association studies may be misinterpreted: genes versus heritability

Vineis, P., Pearce, N. E., Unit-hugef, G. E., & Mrc/hpa Centre For (2016)

Missing heritability of complex diseases: case solved?

Génin, E. (2019) · Human Genetics · doi:10.1007/s00439-019-02034-4 · Cited by 210 · see citing works

Missing Heritability of Complex Traits and Diseases

Nolte, I. M., Tropf, F. C., & Snieder, H. (2019) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0028223 · Cited by 12 · see citing works

GWAS: heritability missing in action?

Clarke, A. J., & Cooper, D. N. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.35 · Cited by 76 · see citing works