The International HapMap Project
Open accessAbstract
The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.
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Increasing availability of reference datasets cataloguing population genetic variation across diverse ethnic backgrounds has supported robust causal inference.
“Increasing availability of reference datasets cataloguing population genetic variation across diverse ethnic backgrounds has supported robust causal inference2,3,5,6.”
From A brief history of human disease genetics (2020) · cites this paper as [2]
HapMap demonstrated that the allelic structure of the genome is segmented into haplotype blocks, each containing sets of correlated variants.
“Systematic efforts to characterize genome-wide patterns of genomic variation, initially through the HapMap Consortium2, proved catalytic, demonstrating that the allelic structure of the genome was segmented into haplotype blocks, each containing sets of correlated variants.”
From A brief history of human disease genetics (2020) · cites this paper as [2]
For common variants underlying the bulk of complex-disease risk, resolution of association mapping is often limited by the haplotype structure of the human genome.
“For the common variants that underlie the bulk of complex-disease risk, the resolution of association mapping is often limited by the haplotype structure of the human genome2–4.”
From A brief history of human disease genetics (2020) · cites this paper as [2]
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- Johns Hopkins University School of Medicine Aravinda Chakravarti 30 , Peter E. Chen 30 , David J. Cutler 30 & Carl S. Kashuk 30 ; University of Oxford Peter Donnelly 31 , Jonathan Marchini 31 , Gilean A. T. McVean 31 & Simon R. Myers 31 ; University of Oxford, Wellcome Trust Centre for Human Genetics Lon R. Cardon 32 , Gonc ¸alo R. Abecasis 33 , Andrew Morris 32 & Bruce S. Weir 34 ; US National Institutes of Health James C. Mullikin 35 , Stephen T. Sherry 36 & Michael Feolo 36 ; Whitehead Institute/MIT Center for Genome Research David Altshuler 19,20 , Mark J. Daly 19 & Stephen F. Schaffner 19 Ethical, Legal and Social Issues: Chinese Academy of Social Sciences Renzong Qiu 37 ; Genetic Interest Group Alastair Kent 38 ;
- Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA; 30, Johns Hopkins University School of Medicine, McKusick-Nathans Institute of Genetic Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA; 31, University of Oxford, Department of Statistics, 1 South Parks Road, Oxford OX1 3TG, UK; 32, University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK; 33, University of Michigan, Department of Biostatistics, Center for Statistical Genetics, 1420 Washington Heights, Ann Arbor, Michigan 48109, USA; 34, North Carolina State University, Bioinformatics Research Center, Campus Box 7566, Raleigh, North Carolina 27695, USA;
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Self-citation
- Authors
- †The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., Huang, W., Liu, B., Shen, Y., Tam, P. K.-H., Tsui, L.-C., Waye, M. M. Y., Wong, J. T.-F., Zeng, C., Zhang, Q., Illumina, Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R., McGill University and Génome Québec Innovation Centre, Montpetit, A., Hudson, T. J., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., University of California at San Francisco and Washington University, Kwok, P.-Y., Duan, S., Lind, D. L., Miller, R. D., Rice, J. P., Saccone, N. L., Taillon-Miller, P., Xiao, M., University of Tokyo and RIKEN, Nakamura, Y., Sekine, A., Sorimachi, K., Tanaka, T., Tanaka, Y., Tsunoda, T., Yoshino, E., Wellcome Trust Sanger Institute, Bentley, D. R., Deloukas, P., Hunt, S., Powell, D., Whitehead Institute/MIT Center for Genome Research, Altshuler, D., Gabriel, S. B., Community engagement/public consultation and sample-collection groups: Beijing Normal University and Beijing Genomics Institute, Zhang, H., Zeng, C., Health Sciences University of Hokkaido, E. E. I. A. S. U., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Howard University and University of Ibadan, Rotimi, C. N., Adebamowo, C. A., Aniagwu, T., Marshall, P. A., Matthew, O., Nkwodimmah, C., Royal, C. D. M., University of Utah, Leppert, M. F., Dixon, M., Laboratory, A. G. C. S. H., Stein, L. D., Cunningham, F., Kanani, A., Thorisson, G. A., Johns Hopkins University School of Medicine, Chakravarti, A., Chen, P. E., Cutler, D. J., Kashuk, C. S., University of Oxford, Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., University of Oxford, W. T. C. F. H. G., Cardon, L. R., Abecasis, G. R., Morris, A., Weir, B. S., Health, U. N. I. O., Mullikin, J. C., Sherry, S. T., Feolo, M., Whitehead Institute/MIT Center for Genome Research, Altshuler, D., Daly, M. J., Schaffner, S. F., Ethical, L. A. S. I. C. A. O. S. S., Qiu, R., Genetic Interest Group, Kent, A., Howard University, Dunston, G. M., Kyoto University, Kato, K., Nagasaki University, Niikawa, N., University of Montréal, Knoppers, B. M., University of Oklahoma, Foster, M. W., Vanderbilt University, Clayton, E. W., Wang, V. O., Wellcome Trust, Watkin, J., SNP Discovery: Baylor College of Medicine, Gibbs, R. A., Belmont, J. W., Sodergren, E., Weinstock, G. M., Washington University, Wilson, R. K., Fulton, L. L., Wellcome Trust Sanger Institute, Rogers, J., Whitehead Institute/MIT Center for Genome Research, Birren, B. W., Scientific Management: Chinese Academy of Sciences, Han, H., Chinese Ministry of Science and Technology, Wang, H., Canada, G., Godbout, M., Wallenburg, J. C., Québec, G., L'Archevêque, P., Bellemare, G., Japanese Ministry of Education, C., Todani, K., Fujita, T., Tanaka, S., The SNP Consortium, Holden, A. L., Lai, E. H., Health, U. N. I. O., Collins, F. S., Brooks, L. D., McEwen, J. E., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Wellcome Trust, Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Initial Planning Groups: Populations and Ethical, L. A. S. I. G., Valle, D. L., Clayton, E. W., Jorde, L. B., Belmont, J. W., Chakravarti, A., Cho, M. K., Duster, T., Foster, M. W., Jasperse, M., Knoppers, B. M., Kwok, P.-Y., Licinio, J., Long, J. C., Marshall, P. A., Ossorio, P. N., Wang, V. O., Rotimi, C. N., Royal, C. D. M., Spallone, P., Terry, S. F., Methods Group, Lander, E. S., Lai, E. H., Nickerson, D. A., Abecasis, G. R., Altshuler, D., Bentley, D. R., Boehnke, M., Cardon, L. R., Daly, M. J., Deloukas, P., Douglas, J. A., Gabriel, S. B., Hudson, R. R., Hudson, T. J., Kruglyak, L., Kwok, P.-Y., Nakamura, Y., Nussbaum, R. L., Royal, C. D. M., Schaffner, S. F., Sherry, S. T., Stein, L. D., & Tanaka, T.
- Affiliations
- Baylor College of Medicine (US)
- Chinese Academy of Sciences (CN)
- Institute of Biomedical Sciences, Academia Sinica (TW)
- Chinese National Human Genome Center (CN)
- University of Hong Kong (HK)
- Chinese University of Hong Kong (HK)
- Illumina (United States) (US)
- McGill University and Génome Québec Innovation Centre (CA)
- Washington University in St. Louis (US)
- University of California, San Francisco (US)
- RIKEN (JP)
- Health Sciences University of Hokkaido (JP)
- Shinshu University (JP)
- Howard University (US)
- University of Ibadan (NG)
- University of Tsukuba (JP)
- Johns Hopkins University (US)
- University of Utah (US)
- Cold Spring Harbor Laboratory (US)
- North Carolina State University (US)
- Chinese Academy of Social Sciences (CN)
- Kyoto University (JP)
- University of Oxford (GB)
- Centre for Human Genetics (GB)
- National Institutes of Health (US)
- Genetic Alliance UK (United Kingdom) (GB)
- Nagasaki University (JP)
- Wellcome Trust (GB)
- University of Maryland, Baltimore (US)
- Wellcome Sanger Institute (GB)
- Massachusetts Institute of Technology (US)
- Vanderbilt University (US)
- Stanford University (US)
- Génome Québec (CA)
- University of New Mexico (US)
- Ministry of Education, Culture, Sports, Science and Technology (JP)
- University of Michigan (US)
- Foundation for the National Institutes of Health (US)
- University of Chicago (US)
- McGill University (CA)
- Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa (ZA)
- The University of Tokyo (JP)
- New York University (US)
- University of New Mexico Health Sciences Center (US)
- University of Wisconsin–Madison (US)
- Genetic Alliance (US)
- Fred Hutch Cancer Center (US)
- ORCID
- Yang, Huanming
- Huang, Wei
- Liu, Bin
- Tam, Paul Kwong-Hang
- Waye, Mary Miu Yee
- Wong, Jeffrey Tze-Fei
- Zhang, Qingrun
- Kruglyak, Semyon
- Murray, Sarah S.
- Ferretti, Vincent
- Duan, Shenghui
- Rice, John P.
- Saccone, Nancy L.
- Xiao, Ming
- Sekine, Akihiro
- Tsunoda, Tatsuhiko
- Hunt, Sarah
- Matsuda, Ichiro
- Fukushima, Yoshimitsu
- Macer, Darryl R.
- Adebamowo, Clement A.
- Aniagwu, Toyin
- Cunningham, Fiona
- Chen, Peter E.
- Cutler, David J.
- Donnelly, Peter
- Marchini, Jonathan
- Myers, Simon R.
- Morris, Andrew
- Weir, Bruce S.
- Mullikin, James C.
- Feolo, Michael
- Kent, Alastair
- Sodergren, Erica
- Weinstock, George M.
- Fulton, Lucinda L.
- Birren, Bruce W.
- Han, Hua
- Wang, Hongguang
- Tanaka, Satoshi
- Collins, Francis S.
- Dunn, Michael G.
- Valle, David L.
- Jorde, Lynn B.
- Cho, Mildred K.
- Duster, Troy
- Long, Jeffrey C.
- Ossorio, Pilar N.
- Terry, Sharon F.
- Lander, Eric S.
- Nickerson, Deborah A.
- Boehnke, Michael
- Douglas, Julie A.
- Kruglyak, Leonid
- Nussbaum, Robert L.
- Venue
- Nature
- Published
- 2003-12-18
- Volume
- 426
- Issue
- 6968
- Pages
- 789-796
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2058401000
- Cited by
- 6,057
- References
- 73
- Citations by year
- 2026: 43 · 2025: 117 · 2024: 143 · 2023: 141 · 2022: 163 · 2021: 166 · 2020: 161 · 2019: 199 · 2018: 179 · 2017: 247 · 2016: 293 · 2015: 320 · 2014: 347 · 2013: 336 · 2012: 378
- FWCI
- 134.60
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion, public-domain)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion, public-domain)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Funders
- W. M. Keck Foundation
- McGill University
- Genome Canada
- Wellcome Trust
- Ministry of Education, Culture, Sports, Science and Technology
- National Natural Science Foundation of China
- University Grants Committee
- Chinese Academy of Sciences
- Beijing Normal University
- Ministry of Science and Technology of the People's Republic of China
- Innovation and Technology Commission
- National Institutes of Health
- National Institute on Alcohol Abuse and Alcoholism
- National Institute on Aging
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Human Genome Research Institute
- National Eye Institute
- National Cancer Institute
- National Institute on Deafness and Other Communication Disorders
- National Institute of General Medical Sciences
- National Institute of Allergy and Infectious Diseases
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of Neurological Disorders and Stroke
- National Institute of Environmental Health Sciences
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- National Institute of Biomedical Imaging and Bioengineering
- National Institute of Dental and Craniofacial Research
- National Center for Research Resources
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- HapMap, human genome, DNA sequence variation, single nucleotide polymorphisms, genotype frequency, population genetic variation, common diseases, genetic association, diagnostic tools, therapeutic target
- MeSH terms
- Base Sequence, DNA, Gene Frequency, Haplotypes, Humans, International Cooperation, Genetic Variation, Genome, Human, Public Sector, Polymorphism, Single Nucleotide, Genomics, Racial Groups
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