Cited by 6,057Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic Mapping and Diversity in Plants and Animals

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The International HapMap Project

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†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, Richard A., Belmont, John W., Hardenbol, Paul, Willis, Thomas D., Yu, Fuli, Chinese HapMap Consortium, Yang, Huanming, Ch'ang, Lan-Yang, Huang, Wei, Liu, Bin, Shen, Yan, Tam, Paul Kwong-Hang, Tsui, Lap-Chee, Waye, Mary Miu Yee, Wong, Jeffrey Tze-Fei, Zeng, Changqing, Zhang, Qingrun, Illumina, Chee, Mark S., Galver, Luana M., Kruglyak, Semyon, Murray, Sarah S., Oliphant, Arnold R., McGill University and Génome Québec Innovation Centre, Montpetit, Alexandre, Hudson, Thomas J., Chagnon, Fanny, Ferretti, Vincent, Leboeuf, Martin, Phillips, Michael S., Verner, Andrei, University of California at San Francisco and Washington University, Kwok, Pui-Yan, Duan, Shenghui, Lind, Denise L., Miller, Raymond D., Rice, John P., Saccone, Nancy L., Taillon-Miller, Patricia, Xiao, Ming, University of Tokyo and RIKEN, Nakamura, Yusuke, Sekine, Akihiro, Sorimachi, Koki, Tanaka, Toshihiro, Tanaka, Yoichi, Tsunoda, Tatsuhiko, Yoshino, Eiji, Wellcome Trust Sanger Institute, Bentley, David R., Deloukas, Panos, Hunt, Sarah, Powell, Don, Whitehead Institute/MIT Center for Genome Research, Altshuler, David, Gabriel, Stacey B., Community engagement/public consultation and sample-collection groups: Beijing Normal University and Beijing Genomics Institute, Zhang, Houcan, Zeng, Changqing, Health Sciences University of Hokkaido, Eubios Ethics Institute and Shinshu University, Matsuda, Ichiro, Fukushima, Yoshimitsu, Macer, Darryl R., Suda, Eiko, Howard University and University of Ibadan, Rotimi, Charles N., Adebamowo, Clement A., Aniagwu, Toyin, Marshall, Patricia A., Matthew, Olayemi, Nkwodimmah, Chibuzor, Royal, Charmaine D. M., University of Utah, Leppert, Mark F., Dixon, Missy, Analysis Groups: Cold Spring Harbor Laboratory, Stein, Lincoln D., Cunningham, Fiona, Kanani, Ardavan, Thorisson, Gudmundur A., Johns Hopkins University School of Medicine, Chakravarti, Aravinda, Chen, Peter E., Cutler, David J., Kashuk, Carl S., University of Oxford, Donnelly, Peter, Marchini, Jonathan, McVean, Gilean A. T., Myers, Simon R., University of Oxford, Wellcome Trust Centre for Human Genetics, Cardon, Lon R., Abecasis, Gonçalo R., Morris, Andrew, Weir, Bruce S., US National Institutes of Health, Mullikin, James C., Sherry, Stephen T., Feolo, Michael, Whitehead Institute/MIT Center for Genome Research, Altshuler, David, Daly, Mark J., Schaffner, Stephen F., Ethical, Legal and Social Issues: Chinese Academy of Social Sciences, Qiu, Renzong, Genetic Interest Group, Kent, Alastair, Howard University, Dunston, Georgia M., Kyoto University, Kato, Kazuto, Nagasaki University, Niikawa, Norio, University of Montréal, Knoppers, Bartha M., University of Oklahoma, Foster, Morris W., Vanderbilt University, Clayton, Ellen Wright, Wang, Vivian Ota, Wellcome Trust, Watkin, Jessica, SNP Discovery: Baylor College of Medicine, Gibbs, Richard A., Belmont, John W., Sodergren, Erica, Weinstock, George M., Washington University, Wilson, Richard K., Fulton, Lucinda L., Wellcome Trust Sanger Institute, Rogers, Jane, Whitehead Institute/MIT Center for Genome Research, Birren, Bruce W., Scientific Management: Chinese Academy of Sciences, Han, Hua, Chinese Ministry of Science and Technology, Wang, Hongguang, Genome Canada, Godbout, Martin, Wallenburg, John C., Génome Québec, L'Archevêque, Paul, Bellemare, Guy, Japanese Ministry of Education, Culture, Sports, Science and Technology, Todani, Kazuo, Fujita, Takashi, Tanaka, Satoshi, The SNP Consortium, Holden, Arthur L., Lai, Eric H., US National Institutes of Health, Collins, Francis S., Brooks, Lisa D., McEwen, Jean E., Guyer, Mark S., Jordan, Elke, Peterson, Jane L., Spiegel, Jack, Sung, Lawrence M., Zacharia, Lynn F., Wellcome Trust, Kennedy, Karen, Dunn, Michael G., Seabrook, Richard, Shillito, Mark, Skene, Barbara, Stewart, John G., Initial Planning Groups: Populations and Ethical, Legal and Social Issues Group, Valle, David L., Clayton, Ellen Wright, Jorde, Lynn B., Belmont, John W., Chakravarti, Aravinda, Cho, Mildred K., Duster, Troy, Foster, Morris W., Jasperse, Marla, Knoppers, Bartha M., Kwok, Pui-Yan, Licinio, Julio, Long, Jeffrey C., Marshall, Patricia A., Ossorio, Pilar N., Wang, Vivian Ota, Rotimi, Charles N., Royal, Charmaine D. M., Spallone, Patricia, Terry, Sharon F., Methods Group, Lander, Eric S., Lai, Eric H., Nickerson, Deborah A., Abecasis, Gonçalo R., Altshuler, David, Bentley, David R., Boehnke, Michael, Cardon, Lon R., Daly, Mark J., Deloukas, Panos, Douglas, Julie A., Gabriel, Stacey B., Hudson, Richard R., Hudson, Thomas J., Kruglyak, Leonid, Kwok, Pui-Yan, Nakamura, Yusuke, Nussbaum, Robert L., Royal, Charmaine D. M., Schaffner, Stephen F., Sherry, Stephen T., Stein, Lincoln D., Tanaka, Toshihiro·2003·Nature

DOI 10.1038/nature02168

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Abstract

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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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
Publisher: Springer Science and Business Media LLC
Published: 2003-12-18
Volume: 426
Issue: 6968
Pages: 789-796
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature02168
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: public-domain
www.springernature.com/gp/researchers/text-and-data-mining (tdm)
www.springernature.com/gp/researchers/text-and-data-mining (vor)
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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