The international HapMap project

John W. Belmont; Paul Hardenbol; Thomas D. Willis; Fuli Yu; Huanming Yang; Lan Yang Ch'Ang; Wei Huang; Bin Liu; Yan Shen; Paul Kwong Hang Tam; Lap Chee Tsui; Mary Miu Yee Waye; Jeffrey Tze Fei Wong; Changqing Zeng; Qingrun Zhang; Mark S. Chee; Luana M. Galver; Semyon Kruglyak; Sarah S. Murray; Arnold R. Oliphant; Alexandre Montpetit; Fanny Chagnon; Vincent Ferretti; Martin Leboeuf; Michael S. Phillips; Andrei Verner; Shenghui Duan; Denise L. Lind; Raymond D. Miller; John Rice; Nancy L. Saccone; Patricia Taillon-Miller; Ming Xiao; Akihiro Sekine; Koki Sorimachi; Yoichi Tanaka; Tatsuhiko Tsunoda; Eiji Yoshino; David R. Bentley; Sarah Hunt; Don Powell; Houcan Zhang; Ichiro Matsuda; Yoshimitsu Fukushima; Darryl R. Macer; Eiko Suda; Charles Rotimi; Clement A. Adebamowo; Toyin Aniagwu; Patricia A. Marshall; Olayemi Matthew; Chibuzor Nkwodimmah; Charmaine D.M. Royal; Mark F. Leppert; Missy Dixon; Fiona Cunningham; Ardavan Kanani; Gudmundur A. Thorisson; Peter E. Chen; David J. Cutler; Carl S. Kashuk; Peter Donnelly; Jonathan Marchini; Gilean A.T. McVean; Simon R. Myers; Lon R. Cardon; Andrew Morris; Bruce S. Weir; James C. Mullikin; Michael Feolo; Mark J. Daly; Renzong Qiu; Alastair Kent; Georgia M. Dunston; Kazuto Kato; Norio Niikawa; Jessica Watkin; Richard A. Gibbs; Erica Sodergren; George M. Weinstock; Richard K. Wilson; Lucinda L. Fulton; Jane Rogers; Bruce W. Birren; Hua Han; Hongguang Wang; Martin Godbout; John C. Wallenburg; Paul L'Archevêque; Guy Bellemare; Kazuo Todani; Takashi Fujita; Satoshi Tanaka; Arthur L. Holden; Francis S. Collins; Lisa D. Brooks; Jean E. McEwen; Mark S. Guyer; Elke Jordan; Jane L. Peterson; Jack Spiegel; Lawrence M. Sung; Lynn F. Zacharia; Karen Kennedy; Michael G. Dunn; Richard Seabrook; Mark Shillito; Barbara Skene; John G. Stewart; David L. Valle; Ellen Wright Clayton; Lynn B. Jorde; Aravinda Chakravarti; Mildred K. Cho; Troy Duster; Morris W. Foster; Maria Jasperse; Bartha M. Knoppers; Pui Yan Kwok; Julio Licinio; Jeffrey C. Long; Pilar Ossorio; Vivian Ota Wang; Charles N. Rotimi; Patricia Spallone; Sharon F. Terry; Eric S. Lander; Eric H. Lai; Deborah A. Nickerson; Gonçalo R. Abecasis; David Altshuler; Michael Boehnke; Panos Deloukas; Julie A. Douglas; Stacey B. Gabriel; Richard R. Hudson; Thomas J. Hudson; Leonid Kruglyak; Yusuke Nakamura; Robert L. Nussbaum; Stephen F. Schaffner; Stephen T. Sherry; Lincoln D. Stein; Toshihiro Tanaka

doi:10.1038/nature02168

The international HapMap project

John W. Belmont, Paul Hardenbol, Thomas D. Willis, Fuli Yu, Huanming Yang, Lan Yang Ch'Ang, Wei Huang, Bin Liu, Yan Shen, Paul Kwong Hang Tam, Lap Chee Tsui, Mary Miu Yee Waye, Jeffrey Tze Fei Wong, Changqing Zeng, Qingrun Zhang, Mark S. Chee, Luana M. Galver, Semyon Kruglyak, Sarah S. Murray, Arnold R. OliphantAlexandre Montpetit, Fanny Chagnon, Vincent Ferretti, Martin Leboeuf, Michael S. Phillips, Andrei Verner, Shenghui Duan, Denise L. Lind, Raymond D. Miller, John Rice, Nancy L. Saccone, Patricia Taillon-Miller, Ming Xiao, Akihiro Sekine, Koki Sorimachi, Yoichi Tanaka, Tatsuhiko Tsunoda, Eiji Yoshino, David R. Bentley, Sarah Hunt, Don Powell, Houcan Zhang, Ichiro Matsuda, Yoshimitsu Fukushima, Darryl R. Macer, Eiko Suda, Charles Rotimi, Clement A. Adebamowo, Toyin Aniagwu, Patricia A. Marshall, Olayemi Matthew, Chibuzor Nkwodimmah, Charmaine D.M. Royal, Mark F. Leppert, Missy Dixon, Fiona Cunningham, Ardavan Kanani, Gudmundur A. Thorisson, Peter E. Chen, David J. Cutler, Carl S. Kashuk, Peter Donnelly, Jonathan Marchini, Gilean A.T. McVean, Simon R. Myers, Lon R. Cardon, Andrew Morris, Bruce S. Weir, James C. Mullikin, Michael Feolo, Mark J. Daly, Renzong Qiu, Alastair Kent, Georgia M. Dunston, Kazuto Kato, Norio Niikawa, Jessica Watkin, Richard A. Gibbs, Erica Sodergren, George M. Weinstock, Richard K. Wilson, Lucinda L. Fulton, Jane Rogers, Bruce W. Birren, Hua Han, Hongguang Wang, Martin Godbout, John C. Wallenburg, Paul L'Archevêque, Guy Bellemare, Kazuo Todani, Takashi Fujita, Satoshi Tanaka, Arthur L. Holden, Francis S. Collins, Lisa D. Brooks, Jean E. McEwen, Mark S. Guyer, Elke Jordan, Jane L. Peterson, Jack Spiegel, Lawrence M. Sung, Lynn F. Zacharia, Karen Kennedy, Michael G. Dunn, Richard Seabrook, Mark Shillito, Barbara Skene, John G. Stewart, David L. Valle, Ellen Wright Clayton, Lynn B. Jorde, Aravinda Chakravarti, Mildred K. Cho, Troy Duster, Morris W. Foster, Maria Jasperse, Bartha M. Knoppers, Pui Yan Kwok, Julio Licinio, Jeffrey C. Long, Pilar Ossorio, Vivian Ota Wang, Charles N. Rotimi, Patricia Spallone, Sharon F. Terry, Eric S. Lander, Eric H. Lai, Deborah A. Nickerson, Gonçalo R. Abecasis, David Altshuler, Michael Boehnke, Panos Deloukas, Julie A. Douglas, Stacey B. Gabriel, Richard R. Hudson, Thomas J. Hudson, Leonid Kruglyak, Yusuke Nakamura, Robert L. Nussbaum, Stephen F. Schaffner, Stephen T. Sherry, Lincoln D. Stein, Toshihiro Tanaka

Research output: Contribution to journal › Article › peer-review

5163 Scopus citations

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.

Original language	English
Pages (from-to)	789-796
Number of pages	8
Journal	Nature
Volume	426
Issue number	6968
DOIs	https://doi.org/10.1038/nature02168
State	Published - Dec 18 2003

Access to Document

10.1038/nature02168

Cite this

@article{376ae6b151784434a029f951600efead,

title = "The international HapMap project",

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.",

author = "Belmont, {John W.} and Paul Hardenbol and Willis, {Thomas D.} and Fuli Yu and Huanming Yang and Ch'Ang, {Lan Yang} and Wei Huang and Bin Liu and Yan Shen and Tam, {Paul Kwong Hang} and Tsui, {Lap Chee} and Waye, {Mary Miu Yee} and Wong, {Jeffrey Tze Fei} and Changqing Zeng and Qingrun Zhang and Chee, {Mark S.} and Galver, {Luana M.} and Semyon Kruglyak and Murray, {Sarah S.} and Oliphant, {Arnold R.} and Alexandre Montpetit and Fanny Chagnon and Vincent Ferretti and Martin Leboeuf and Phillips, {Michael S.} and Andrei Verner and Shenghui Duan and Lind, {Denise L.} and Miller, {Raymond D.} and John Rice and Saccone, {Nancy L.} and Patricia Taillon-Miller and Ming Xiao and Akihiro Sekine and Koki Sorimachi and Yoichi Tanaka and Tatsuhiko Tsunoda and Eiji Yoshino and Bentley, {David R.} and Sarah Hunt and Don Powell and Houcan Zhang and Ichiro Matsuda and Yoshimitsu Fukushima and Macer, {Darryl R.} and Eiko Suda and Charles Rotimi and Adebamowo, {Clement A.} and Toyin Aniagwu and Marshall, {Patricia A.} and Olayemi Matthew and Chibuzor Nkwodimmah and Royal, {Charmaine D.M.} and Leppert, {Mark F.} and Missy Dixon and Fiona Cunningham and Ardavan Kanani and Thorisson, {Gudmundur A.} and Chen, {Peter E.} and Cutler, {David J.} and Kashuk, {Carl S.} and Peter Donnelly and Jonathan Marchini and McVean, {Gilean A.T.} and Myers, {Simon R.} and Cardon, {Lon R.} and Andrew Morris and Weir, {Bruce S.} and Mullikin, {James C.} and Michael Feolo and Daly, {Mark J.} and Renzong Qiu and Alastair Kent and Dunston, {Georgia M.} and Kazuto Kato and Norio Niikawa and Jessica Watkin and Gibbs, {Richard A.} and Erica Sodergren and Weinstock, {George M.} and Wilson, {Richard K.} and Fulton, {Lucinda L.} and Jane Rogers and Birren, {Bruce W.} and Hua Han and Hongguang Wang and Martin Godbout and Wallenburg, {John C.} and Paul L'Archev{\^e}que and Guy Bellemare and Kazuo Todani and Takashi Fujita and Satoshi Tanaka and Holden, {Arthur L.} and Collins, {Francis S.} and Brooks, {Lisa D.} and McEwen, {Jean E.} and Guyer, {Mark S.} and Elke Jordan and Peterson, {Jane L.} and Jack Spiegel and Sung, {Lawrence M.} and Zacharia, {Lynn F.} and Karen Kennedy and Dunn, {Michael G.} and Richard Seabrook and Mark Shillito and Barbara Skene and Stewart, {John G.} and Valle, {David L.} and Clayton, {Ellen Wright} and Jorde, {Lynn B.} and Aravinda Chakravarti and Cho, {Mildred K.} and Troy Duster and Foster, {Morris W.} and Maria Jasperse and Knoppers, {Bartha M.} and Kwok, {Pui Yan} and Julio Licinio and Long, {Jeffrey C.} and Pilar Ossorio and Wang, {Vivian Ota} and Rotimi, {Charles N.} and Patricia Spallone and Terry, {Sharon F.} and Lander, {Eric S.} and Lai, {Eric H.} and Nickerson, {Deborah A.} and Abecasis, {Gon{\c c}alo R.} and David Altshuler and Michael Boehnke and Panos Deloukas and Douglas, {Julie A.} and Gabriel, {Stacey B.} and Hudson, {Richard R.} and Hudson, {Thomas J.} and Leonid Kruglyak and Yusuke Nakamura and Nussbaum, {Robert L.} and Schaffner, {Stephen F.} and Sherry, {Stephen T.} and Stein, {Lincoln D.} and Toshihiro Tanaka",

note = "Funding Information: Acknowledgements We thank many people who contributed to this project: J. Beck, C. Beiswanger, D. Coppock, J. Mintzer and L. Toji at the Coriell Institute for Medical Research for transforming the samples, distributing the DNA and cell lines, and storing the samples for use in future research; J. Greenberg and R. Anderson of the NIH National Institute of General Medical Sciences (NIGMS) for providing funding and support for cell-line transformation and storage in the NIGMS Human Genetic Cell Repository at the Coriell Institute; K. Wakui at Shinshu University for assistance in transforming the Japanese cell lines; N. Carter and D. Willey at the Wellcome Trust Sanger Institute for flow sorting the chromosomes and for library construction, respectively; M. Deschesnes and B. Godard for assistance at the University of Montr{\'e}al; C. Darmond-Zwaig, J. Olivier and S. Roumy at McGill University and G{\'e}nome Qu{\'e}bec Innovation Centre; C. Allred, B. Gillman, E. Kloss and M. Rieder for help in implementing data flow protocols; S. Olson for work on the website explanations; S. Adeniyi-Jones, D. Burgess, W. Burke, T. Citrin, A. Clark, D. Cowhig, P. Epps, K. Hofman, A. Holt, E. Juengst, B. Keats, J. Levin, R. Myers, A. Obuoforibo, F. Romero, C. Tamura and A. Williamson for providing advice on the project to NIH; A. Peck and J. Witonsky of the National Human Genome Research Institute (NHGRI) for help with project management; E. DeHaut-Combs and S. Saylor of NHGRI for staff support; M. Gray for organizing phone calls and meetings; the people of Tokyo, Japan, the Yoruba people of Ibadan, Nigeria, and the community at Beijing Normal University, who participated in public consultations and community engagements; and the people in these communities who were generous in donating their blood samples. This work was supported in part by Genome Canada, G{\'e}nome Qu{\'e}bec, the Chinese Ministry of Science and Technology, the Chinese Academy of Sciences, the Natural Science Foundation of China, the Hong Kong Innovation and Technology Commission, the University Grants Committee of Hong Kong, the Japanese Ministry of Education, Culture, Sports, Science and Technology, the Wellcome Trust, the SNP Consortium, the US National Institutes of Health (FIC, NCI, NCRR, NEI, NHGRI, NIA, NIAAA, NIAID, NIAMS, NIBIB, NIDA, NIDCD, NIDCR, NIDDK, NIEHS, NIGMS, NIMH, NINDS, OD), the W.M. Keck Foundation and the Delores Dore Eccles Foundation. Funding Information: Affiliations for participants: 1, Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics, 1 Baylor Plaza, Houston, Texas 77030, USA; 2, ParAllele BioScience, 384 Oyster Point Boulevard, Suite 8, South San Francisco, California 94080, USA; 3, Beijing Genomics Institute, Chinese Academy of Sciences, Beijing 100300, China; 4, Institute of Biomedical Sciences, 128 Yen-Jiou Yuan Road, Sec. 2, Taipei, Taiwan, 115; 5, Chinese National Human Genome Center at Shanghai, 250 Bi Bo Road, Shanghai 201203, China; 6, Chinese National Human Genome Center at Beijing, Yongchang North Road 3-707, Beijing Economy and Technology Development Zone, 100176, China; 7, University of Hong Kong, Genome Research Centre, 6/F, Laboratory Block, 21 Sassoon Road, Pokfulam, Hong Kong; 8, University of Hong Kong, 10/F, Knowles Building, Pokfulam Road, Hong Kong; 9, The Chinese University of Hong Kong, Department of Biochemistry, Room 608, 6/F Mong Man Wai Building, Shatin, Hong Kong; 10, Hong Kong University of Science and Technology, Department of Biochemistry, Clear Water Bay, Knowloon, Hong Kong; 11, Illumina, 9885 Towne Centre Drive, San Diego, California 92121, USA; 12, McGill University and G{\'e}nome Qu{\'e}bec Innovation Centre, 740 Dr Penfield Avenue, Montr{\'e}al, Qu{\'e}bec H3A 1A4, Canada; 13, University of California, San Francisco, Cardiovascular Research Institute, 505 Parnassus Avenue Long 1332A, Box 0130, San Francisco, California 94143, USA; 14, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, Missouri 63110, USA; 15, University of Tokyo, Institute of Medical Science, 4-6-1 Sirokanedai, Minato-ku, Tokyo 108-8639, Japan; 16, RIKEN SNP Research Center, 1-7-22 Suehiro-cho, Tsurumi-ku Yokohama, Kanagawa 230-0045, Japan; 17, RIKEN Technology Transfer and Research Coordination Division, 2-1 Hirosawa, Wako, Saitama, Japan; 18, Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK; 19, Whitehead Institute/MIT Center for Genome Research, 1 Kendall Square, Cambridge, Massachusetts 02139, USA; 20, Massachusetts General Hospital, 50 Blossom Street, Wellman 831, Boston, Massachusetts 02114, USA; 21, Beijing Normal University, 19 Xinjiekouwai Street, Beijing 100875, China; 22, Health Sciences University of Hokkaido, Ezuko Institution for Developmental Disabilities, Ezumachi 575, Kumamoto, Japan; 23, Shinshu University School of Medicine, Department of Medical Genetics, Matsumoto 390-8621, Japan; 24, University of Tsukuba, Eubios Ethics Institute, P.O. Box 125, Tsukuba Science City 305-8691, Japan; 25, Howard University, National Human Genome Center, 2216 6th Street NW, Washington, District of Columbia 20059, USA; 26, University of Ibadan College of Medicine, Ibadan, Oyo State, Nigeria; 27, Case Western Reserve University School of Medicine, Department of Bioethics, 10900 Euclid Avenue, Cleveland, Ohio 44106, USA; 28, University of Utah, Eccles Institute of Human Genetics, Department of Human Genetics, 15 North 2030 East, Salt Lake City, Utah 84112, USA; 29, 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; 35, US National Institutes of Health, National Human Genome Research Institute, 50 South Drive, Bethesda, Maryland 20892, USA 36, US National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, 8600 Rockville Pike, Bethesda, Maryland 20894, USA; 37, Chinese Academy of Social Sciences, Center for Applied Ethics, 2121, Building 9, Caoqiao Xinyuan 3 Qu, Beijing 100054, China; 38, Genetic Interest Group, 4D Leroy House, 436 Essex Road, London N1 3QP, UK; 39, Kyoto University, Institute for Research in Humanities, Ushinomiya-cho, Sakyo-ku, Kyoto 606-8501, Japan; 40, Nagasaki University Graduate School of Biomedical Sciences, Department of Human Genetics, Sakamoto 1-12-4, Nagasaki 852-8523, Japan; 41, University of Montr{\'e}al, The Public Law Research Centre (CRDP), P.O. Box 6128, Downtown Station, Montr{\'e}al, Qu{\'e}bec H3C 3J7, Canada; 42, University of Oklahoma, Department of Anthropology, 455 West Lindsey Street, Norman, Oklahoma 73019, USA; 43, Vanderbilt University, Center for Genetics and Health Policy, 507 Light Hall, Nashville, Tennessee 37232, USA; 44, Wellcome Trust, 183 Euston Road, London NW1 2BE, UK; 45, Washington University School of Medicine, Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA; 46, Whitehead Institute/MIT Center for Genome Research, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA; 47, Chinese Academy of Sciences, 52 Sanlihe Road, Beijing 100864, China; 48, Chinese Ministry of Science and Technology, 15B Fuxing Road, Beijing 100862, China; 49, Genome Canada, 150 Metcalfe Street, Suite 2100, Ottawa, Ontario K2P 1P1, Canada; 50, McGill University, Office of Technology Transfer, 3550 University Street, Montr{\'e}al, Qu{\'e}bec H3A 2A7, Canada; 51, G{\'e}nome Qu{\'e}bec, 630 Boulevard Ren{\'e}-L{\'e}vesque Ouest, Montr{\'e}al, Qu{\'e}bec H3B 1S6, Canada; 52, Ministry of Education, Culture, Sports, Science and Technology, 3-2-2 Kasumigaseki, Chiyodaku, Tokyo, Japan; 53, Hiraki and Associates, Toranomon No. 5 Mori Building, 17-1, Toranomon 1-Chome, Minato-Ku, Tokyo 105-0001, Japan; 54, The SNP Consortium, 3 Parkway North, Deerfield, Illinois 60015, USA; 55, GlaxoSmithKline, 5 Moore Drive, Research Triangle Park, North Carolina 27709, USA; 56, US National Institutes of Health, National Human Genome Research Institute, 31 Center Drive, Bethesda, Maryland 20892, USA; 57, Foundation for the National Institutes of Health, 1 Cloister Court, Bethesda, Maryland 20892, USA; 58, US National Institutes of Health, Office of Technology Transfer, 6011 Executive Boulevard, Rockville, Maryland 20852, USA; 59, University of Maryland School of Law, 500 West Baltimore Street, Baltimore, Maryland 21201, USA; 60, Herbert Smith, Exchange House, Primrose Street, London EC2A 2HS, UK 61, Johns Hopkins University School of Medicine, Howard Hughes Medical Institute and the McKusick–Nathans Institute of Genetic Medicine, 725 North Wolfe Street, Baltimore, Maryland 21205, USA; 62, Stanford Center for Biomedical Ethics, 701AWelch Road, Palo Alto, California 94304, USA; 63, New York University, Department of Sociology, 269 Mercer Street, New York, New York 10003, USA; 64, University of California, Berkeley, Department of Sociology, 2420 Bowditch, Berkeley, California 94720, USA; 65, University of New Mexico Health Sciences Center, 214 East Nizhoni Boulevard, Gallup, New Mexico 87301, USA; 66, University of California, Los Angeles, School of Medicine, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA; 67, University of Michigan, Department of Human Genetics, 1241 East Catherine Street, Ann Arbor, Michigan 48109, USA; 68, University of Wisconsin School of Law, 975 Bascom Mall, Madison, Wisconsin 53706, USA; 69, The London School of Economics and Political Science, Houghton Street, London WC2A 2AE, UK; 70, Genetic Alliance, 4301 Connecticut Avenue NW, Suite 404, Washington, District of Columbia 20008, USA; 71, University of Washington, Department of Genome Sciences, Box 357730, Seattle, Washington 98125, USA; 72, University of Chicago, Department of Ecology and Evolution, 1101 East 57th Street, Chicago, Illinois 60637, USA; 73, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, Washington 98109, USA; 74, US National Institutes of Health, National Human Genome Research Institute, 49 Convent Drive, Bethesda, Maryland 20892, USA Funding Information: Scientific Management: Chinese Academy of Sciences Hua Han47; Chinese Ministry of Science and Technology Hongguang Wang48; Genome Canada Martin Godbout49 & John C. Wallenburg50; G{\'e}nome Qu{\'e}bec Paul L{\textquoteright}Archev{\^e}que51 & Guy Bellemare51; Japanese Ministry of Education, Culture, Sports, Science and Technology Kazuo Todani52, Takashi Fujita53 & Satoshi Tanaka52; The SNP Consortium Arthur L. Holden54 & Eric H. Lai55; US National Institutes of Health Francis S. Collins56, Lisa D. Brooks56, Jean E. McEwen56, Mark S. Guyer56, Elke Jordan57, Jane L. Peterson56, Jack Spiegel58, Lawrence M. Sung59 & Lynn F. Zacharia56; Wellcome Trust Karen Kennedy44, Michael G. Dunn44, Richard Seabrook44, Mark Shillito60, Barbara Skene44 & John G. Stewart44",

year = "2003",

month = dec,

day = "18",

doi = "10.1038/nature02168",

language = "English",

volume = "426",

pages = "789--796",

journal = "Nature",

issn = "0028-0836",

number = "6968",

}

Belmont, JW, Hardenbol, P, Willis, TD, Yu, F, Yang, H, Ch'Ang, LY, Huang, W, Liu, B, Shen, Y, Tam, PKH, Tsui, LC, Waye, MMY, Wong, JTF, Zeng, C, Zhang, Q, Chee, MS, Galver, LM, Kruglyak, S, Murray, SS, Oliphant, AR, Montpetit, A, Chagnon, F, Ferretti, V, Leboeuf, M, Phillips, MS, Verner, A, Duan, S, Lind, DL, Miller, RD, Rice, J , Saccone, NL, Taillon-Miller, P, Xiao, M, Sekine, A, Sorimachi, K, Tanaka, Y, Tsunoda, T, Yoshino, E, Bentley, DR, Hunt, S, Powell, D, Zhang, H, Matsuda, I, Fukushima, Y, Macer, DR, Suda, E, Rotimi, C, Adebamowo, CA, Aniagwu, T, Marshall, PA, Matthew, O, Nkwodimmah, C, Royal, CDM, Leppert, MF, Dixon, M, Cunningham, F, Kanani, A, Thorisson, GA, Chen, PE, Cutler, DJ, Kashuk, CS, Donnelly, P, Marchini, J, McVean, GAT, Myers, SR, Cardon, LR, Morris, A, Weir, BS, Mullikin, JC, Feolo, M, Daly, MJ, Qiu, R, Kent, A, Dunston, GM, Kato, K, Niikawa, N, Watkin, J, Gibbs, RA, Sodergren, E, Weinstock, GM, Wilson, RK, Fulton, LL, Rogers, J, Birren, BW, Han, H, Wang, H, Godbout, M, Wallenburg, JC, L'Archevêque, P, Bellemare, G, Todani, K, Fujita, T, Tanaka, S, Holden, AL, Collins, FS, Brooks, LD, McEwen, JE, Guyer, MS, Jordan, E, Peterson, JL, Spiegel, J, Sung, LM, Zacharia, LF, Kennedy, K, Dunn, MG, Seabrook, R, Shillito, M, Skene, B, Stewart, JG, Valle, DL, Clayton, EW, Jorde, LB, Chakravarti, A, Cho, MK, Duster, T, Foster, MW, Jasperse, M, Knoppers, BM, Kwok, PY, Licinio, J, Long, JC, Ossorio, P, Wang, VO, Rotimi, CN, Spallone, P, Terry, SF, Lander, ES, Lai, EH, Nickerson, DA, Abecasis, GR, Altshuler, D, Boehnke, M, Deloukas, P, Douglas, JA, Gabriel, SB, Hudson, RR, Hudson, TJ, Kruglyak, L, Nakamura, Y, Nussbaum, RL, Schaffner, SF, Sherry, ST, Stein, LD & Tanaka, T 2003, 'The international HapMap project', Nature, vol. 426, no. 6968, pp. 789-796. https://doi.org/10.1038/nature02168

TY - JOUR

T1 - The international HapMap project

AU - Belmont, John W.

AU - Hardenbol, Paul

AU - Willis, Thomas D.

AU - Yu, Fuli

AU - Yang, Huanming

AU - Ch'Ang, Lan Yang

AU - Huang, Wei

AU - Liu, Bin

AU - Shen, Yan

AU - Tam, Paul Kwong Hang

AU - Tsui, Lap Chee

AU - Waye, Mary Miu Yee

AU - Wong, Jeffrey Tze Fei

AU - Zeng, Changqing

AU - Zhang, Qingrun

AU - Chee, Mark S.

AU - Galver, Luana M.

AU - Kruglyak, Semyon

AU - Murray, Sarah S.

AU - Oliphant, Arnold R.

AU - Montpetit, Alexandre

AU - Chagnon, Fanny

AU - Ferretti, Vincent

AU - Leboeuf, Martin

AU - Phillips, Michael S.

AU - Verner, Andrei

AU - Duan, Shenghui

AU - Lind, Denise L.

AU - Miller, Raymond D.

AU - Rice, John

AU - Saccone, Nancy L.

AU - Taillon-Miller, Patricia

AU - Xiao, Ming

AU - Sekine, Akihiro

AU - Sorimachi, Koki

AU - Tanaka, Yoichi

AU - Tsunoda, Tatsuhiko

AU - Yoshino, Eiji

AU - Bentley, David R.

AU - Hunt, Sarah

AU - Powell, Don

AU - Zhang, Houcan

AU - Matsuda, Ichiro

AU - Fukushima, Yoshimitsu

AU - Macer, Darryl R.

AU - Suda, Eiko

AU - Rotimi, Charles

AU - Adebamowo, Clement A.

AU - Aniagwu, Toyin

AU - Marshall, Patricia A.

AU - Matthew, Olayemi

AU - Nkwodimmah, Chibuzor

AU - Royal, Charmaine D.M.

AU - Leppert, Mark F.

AU - Dixon, Missy

AU - Cunningham, Fiona

AU - Kanani, Ardavan

AU - Thorisson, Gudmundur A.

AU - Chen, Peter E.

AU - Cutler, David J.

AU - Kashuk, Carl S.

AU - Donnelly, Peter

AU - Marchini, Jonathan

AU - McVean, Gilean A.T.

AU - Myers, Simon R.

AU - Cardon, Lon R.

AU - Morris, Andrew

AU - Weir, Bruce S.

AU - Mullikin, James C.

AU - Feolo, Michael

AU - Daly, Mark J.

AU - Qiu, Renzong

AU - Kent, Alastair

AU - Dunston, Georgia M.

AU - Kato, Kazuto

AU - Niikawa, Norio

AU - Watkin, Jessica

AU - Gibbs, Richard A.

AU - Sodergren, Erica

AU - Weinstock, George M.

AU - Wilson, Richard K.

AU - Fulton, Lucinda L.

AU - Rogers, Jane

AU - Birren, Bruce W.

AU - Han, Hua

AU - Wang, Hongguang

AU - Godbout, Martin

AU - Wallenburg, John C.

AU - L'Archevêque, Paul

AU - Bellemare, Guy

AU - Todani, Kazuo

AU - Fujita, Takashi

AU - Tanaka, Satoshi

AU - Holden, Arthur L.

AU - Collins, Francis S.

AU - Brooks, Lisa D.

AU - McEwen, Jean E.

AU - Guyer, Mark S.

AU - Jordan, Elke

AU - Peterson, Jane L.

AU - Spiegel, Jack

AU - Sung, Lawrence M.

AU - Zacharia, Lynn F.

AU - Kennedy, Karen

AU - Dunn, Michael G.

AU - Seabrook, Richard

AU - Shillito, Mark

AU - Skene, Barbara

AU - Stewart, John G.

AU - Valle, David L.

AU - Clayton, Ellen Wright

AU - Jorde, Lynn B.

AU - Chakravarti, Aravinda

AU - Cho, Mildred K.

AU - Duster, Troy

AU - Foster, Morris W.

AU - Jasperse, Maria

AU - Knoppers, Bartha M.

AU - Kwok, Pui Yan

AU - Licinio, Julio

AU - Long, Jeffrey C.

AU - Ossorio, Pilar

AU - Wang, Vivian Ota

AU - Rotimi, Charles N.

AU - Spallone, Patricia

AU - Terry, Sharon F.

AU - Lander, Eric S.

AU - Lai, Eric H.

AU - Nickerson, Deborah A.

AU - Abecasis, Gonçalo R.

AU - Altshuler, David

AU - Boehnke, Michael

AU - Deloukas, Panos

AU - Douglas, Julie A.

AU - Gabriel, Stacey B.

AU - Hudson, Richard R.

AU - Hudson, Thomas J.

AU - Kruglyak, Leonid

AU - Nakamura, Yusuke

AU - Nussbaum, Robert L.

AU - Schaffner, Stephen F.

AU - Sherry, Stephen T.

AU - Stein, Lincoln D.

AU - Tanaka, Toshihiro

N1 - Funding Information: Acknowledgements We thank many people who contributed to this project: J. Beck, C. Beiswanger, D. Coppock, J. Mintzer and L. Toji at the Coriell Institute for Medical Research for transforming the samples, distributing the DNA and cell lines, and storing the samples for use in future research; J. Greenberg and R. Anderson of the NIH National Institute of General Medical Sciences (NIGMS) for providing funding and support for cell-line transformation and storage in the NIGMS Human Genetic Cell Repository at the Coriell Institute; K. Wakui at Shinshu University for assistance in transforming the Japanese cell lines; N. Carter and D. Willey at the Wellcome Trust Sanger Institute for flow sorting the chromosomes and for library construction, respectively; M. Deschesnes and B. Godard for assistance at the University of Montréal; C. Darmond-Zwaig, J. Olivier and S. Roumy at McGill University and Génome Québec Innovation Centre; C. Allred, B. Gillman, E. Kloss and M. Rieder for help in implementing data flow protocols; S. Olson for work on the website explanations; S. Adeniyi-Jones, D. Burgess, W. Burke, T. Citrin, A. Clark, D. Cowhig, P. Epps, K. Hofman, A. Holt, E. Juengst, B. Keats, J. Levin, R. Myers, A. Obuoforibo, F. Romero, C. Tamura and A. Williamson for providing advice on the project to NIH; A. Peck and J. Witonsky of the National Human Genome Research Institute (NHGRI) for help with project management; E. DeHaut-Combs and S. Saylor of NHGRI for staff support; M. Gray for organizing phone calls and meetings; the people of Tokyo, Japan, the Yoruba people of Ibadan, Nigeria, and the community at Beijing Normal University, who participated in public consultations and community engagements; and the people in these communities who were generous in donating their blood samples. This work was supported in part by Genome Canada, Génome Québec, the Chinese Ministry of Science and Technology, the Chinese Academy of Sciences, the Natural Science Foundation of China, the Hong Kong Innovation and Technology Commission, the University Grants Committee of Hong Kong, the Japanese Ministry of Education, Culture, Sports, Science and Technology, the Wellcome Trust, the SNP Consortium, the US National Institutes of Health (FIC, NCI, NCRR, NEI, NHGRI, NIA, NIAAA, NIAID, NIAMS, NIBIB, NIDA, NIDCD, NIDCR, NIDDK, NIEHS, NIGMS, NIMH, NINDS, OD), the W.M. Keck Foundation and the Delores Dore Eccles Foundation. Funding Information: Affiliations for participants: 1, Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics, 1 Baylor Plaza, Houston, Texas 77030, USA; 2, ParAllele BioScience, 384 Oyster Point Boulevard, Suite 8, South San Francisco, California 94080, USA; 3, Beijing Genomics Institute, Chinese Academy of Sciences, Beijing 100300, China; 4, Institute of Biomedical Sciences, 128 Yen-Jiou Yuan Road, Sec. 2, Taipei, Taiwan, 115; 5, Chinese National Human Genome Center at Shanghai, 250 Bi Bo Road, Shanghai 201203, China; 6, Chinese National Human Genome Center at Beijing, Yongchang North Road 3-707, Beijing Economy and Technology Development Zone, 100176, China; 7, University of Hong Kong, Genome Research Centre, 6/F, Laboratory Block, 21 Sassoon Road, Pokfulam, Hong Kong; 8, University of Hong Kong, 10/F, Knowles Building, Pokfulam Road, Hong Kong; 9, The Chinese University of Hong Kong, Department of Biochemistry, Room 608, 6/F Mong Man Wai Building, Shatin, Hong Kong; 10, Hong Kong University of Science and Technology, Department of Biochemistry, Clear Water Bay, Knowloon, Hong Kong; 11, Illumina, 9885 Towne Centre Drive, San Diego, California 92121, USA; 12, McGill University and Génome Québec Innovation Centre, 740 Dr Penfield Avenue, Montréal, Québec H3A 1A4, Canada; 13, University of California, San Francisco, Cardiovascular Research Institute, 505 Parnassus Avenue Long 1332A, Box 0130, San Francisco, California 94143, USA; 14, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, Missouri 63110, USA; 15, University of Tokyo, Institute of Medical Science, 4-6-1 Sirokanedai, Minato-ku, Tokyo 108-8639, Japan; 16, RIKEN SNP Research Center, 1-7-22 Suehiro-cho, Tsurumi-ku Yokohama, Kanagawa 230-0045, Japan; 17, RIKEN Technology Transfer and Research Coordination Division, 2-1 Hirosawa, Wako, Saitama, Japan; 18, Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK; 19, Whitehead Institute/MIT Center for Genome Research, 1 Kendall Square, Cambridge, Massachusetts 02139, USA; 20, Massachusetts General Hospital, 50 Blossom Street, Wellman 831, Boston, Massachusetts 02114, USA; 21, Beijing Normal University, 19 Xinjiekouwai Street, Beijing 100875, China; 22, Health Sciences University of Hokkaido, Ezuko Institution for Developmental Disabilities, Ezumachi 575, Kumamoto, Japan; 23, Shinshu University School of Medicine, Department of Medical Genetics, Matsumoto 390-8621, Japan; 24, University of Tsukuba, Eubios Ethics Institute, P.O. Box 125, Tsukuba Science City 305-8691, Japan; 25, Howard University, National Human Genome Center, 2216 6th Street NW, Washington, District of Columbia 20059, USA; 26, University of Ibadan College of Medicine, Ibadan, Oyo State, Nigeria; 27, Case Western Reserve University School of Medicine, Department of Bioethics, 10900 Euclid Avenue, Cleveland, Ohio 44106, USA; 28, University of Utah, Eccles Institute of Human Genetics, Department of Human Genetics, 15 North 2030 East, Salt Lake City, Utah 84112, USA; 29, 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; 35, US National Institutes of Health, National Human Genome Research Institute, 50 South Drive, Bethesda, Maryland 20892, USA 36, US National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, 8600 Rockville Pike, Bethesda, Maryland 20894, USA; 37, Chinese Academy of Social Sciences, Center for Applied Ethics, 2121, Building 9, Caoqiao Xinyuan 3 Qu, Beijing 100054, China; 38, Genetic Interest Group, 4D Leroy House, 436 Essex Road, London N1 3QP, UK; 39, Kyoto University, Institute for Research in Humanities, Ushinomiya-cho, Sakyo-ku, Kyoto 606-8501, Japan; 40, Nagasaki University Graduate School of Biomedical Sciences, Department of Human Genetics, Sakamoto 1-12-4, Nagasaki 852-8523, Japan; 41, University of Montréal, The Public Law Research Centre (CRDP), P.O. Box 6128, Downtown Station, Montréal, Québec H3C 3J7, Canada; 42, University of Oklahoma, Department of Anthropology, 455 West Lindsey Street, Norman, Oklahoma 73019, USA; 43, Vanderbilt University, Center for Genetics and Health Policy, 507 Light Hall, Nashville, Tennessee 37232, USA; 44, Wellcome Trust, 183 Euston Road, London NW1 2BE, UK; 45, Washington University School of Medicine, Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA; 46, Whitehead Institute/MIT Center for Genome Research, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA; 47, Chinese Academy of Sciences, 52 Sanlihe Road, Beijing 100864, China; 48, Chinese Ministry of Science and Technology, 15B Fuxing Road, Beijing 100862, China; 49, Genome Canada, 150 Metcalfe Street, Suite 2100, Ottawa, Ontario K2P 1P1, Canada; 50, McGill University, Office of Technology Transfer, 3550 University Street, Montréal, Québec H3A 2A7, Canada; 51, Génome Québec, 630 Boulevard René-Lévesque Ouest, Montréal, Québec H3B 1S6, Canada; 52, Ministry of Education, Culture, Sports, Science and Technology, 3-2-2 Kasumigaseki, Chiyodaku, Tokyo, Japan; 53, Hiraki and Associates, Toranomon No. 5 Mori Building, 17-1, Toranomon 1-Chome, Minato-Ku, Tokyo 105-0001, Japan; 54, The SNP Consortium, 3 Parkway North, Deerfield, Illinois 60015, USA; 55, GlaxoSmithKline, 5 Moore Drive, Research Triangle Park, North Carolina 27709, USA; 56, US National Institutes of Health, National Human Genome Research Institute, 31 Center Drive, Bethesda, Maryland 20892, USA; 57, Foundation for the National Institutes of Health, 1 Cloister Court, Bethesda, Maryland 20892, USA; 58, US National Institutes of Health, Office of Technology Transfer, 6011 Executive Boulevard, Rockville, Maryland 20852, USA; 59, University of Maryland School of Law, 500 West Baltimore Street, Baltimore, Maryland 21201, USA; 60, Herbert Smith, Exchange House, Primrose Street, London EC2A 2HS, UK 61, Johns Hopkins University School of Medicine, Howard Hughes Medical Institute and the McKusick–Nathans Institute of Genetic Medicine, 725 North Wolfe Street, Baltimore, Maryland 21205, USA; 62, Stanford Center for Biomedical Ethics, 701AWelch Road, Palo Alto, California 94304, USA; 63, New York University, Department of Sociology, 269 Mercer Street, New York, New York 10003, USA; 64, University of California, Berkeley, Department of Sociology, 2420 Bowditch, Berkeley, California 94720, USA; 65, University of New Mexico Health Sciences Center, 214 East Nizhoni Boulevard, Gallup, New Mexico 87301, USA; 66, University of California, Los Angeles, School of Medicine, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA; 67, University of Michigan, Department of Human Genetics, 1241 East Catherine Street, Ann Arbor, Michigan 48109, USA; 68, University of Wisconsin School of Law, 975 Bascom Mall, Madison, Wisconsin 53706, USA; 69, The London School of Economics and Political Science, Houghton Street, London WC2A 2AE, UK; 70, Genetic Alliance, 4301 Connecticut Avenue NW, Suite 404, Washington, District of Columbia 20008, USA; 71, University of Washington, Department of Genome Sciences, Box 357730, Seattle, Washington 98125, USA; 72, University of Chicago, Department of Ecology and Evolution, 1101 East 57th Street, Chicago, Illinois 60637, USA; 73, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, Washington 98109, USA; 74, US National Institutes of Health, National Human Genome Research Institute, 49 Convent Drive, Bethesda, Maryland 20892, USA Funding Information: Scientific Management: Chinese Academy of Sciences Hua Han47; Chinese Ministry of Science and Technology Hongguang Wang48; Genome Canada Martin Godbout49 & John C. Wallenburg50; Génome Québec Paul L’Archevêque51 & Guy Bellemare51; Japanese Ministry of Education, Culture, Sports, Science and Technology Kazuo Todani52, Takashi Fujita53 & Satoshi Tanaka52; The SNP Consortium Arthur L. Holden54 & Eric H. Lai55; US National Institutes of Health Francis S. Collins56, Lisa D. Brooks56, Jean E. McEwen56, Mark S. Guyer56, Elke Jordan57, Jane L. Peterson56, Jack Spiegel58, Lawrence M. Sung59 & Lynn F. Zacharia56; Wellcome Trust Karen Kennedy44, Michael G. Dunn44, Richard Seabrook44, Mark Shillito60, Barbara Skene44 & John G. Stewart44

PY - 2003/12/18

Y1 - 2003/12/18

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=79959503826&partnerID=8YFLogxK

U2 - 10.1038/nature02168

DO - 10.1038/nature02168

M3 - Article

C2 - 14685227

AN - SCOPUS:79959503826

SN - 0028-0836

VL - 426

SP - 789

EP - 796

JO - Nature

JF - Nature

IS - 6968

ER -

The international HapMap project

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