A haplotype map of the human genome

John W. Belmont, Andrew Boudreau, Suzanne M. Leal, Paul Hardenbol, Shiran Pasternak, David A. Wheeler, Thomas D. Willis, Fuli Yu, Huanming Yang, Yang Gao, Haoran Hu, Weitao Hu, Chaohua Li, Wei Lin, Siqi Liu, Hao Pan, Xiaoli Tang, Jian Wang, Wei Wang, Jun YuBo Zhang, Qingrun Zhang, Hongbin Zhao, Jun Zhou, Rachel Barry, Brendan Blumenstiel, Amy Camargo, Matthew Defelice, Maura Faggart, Mary Goyette, Supriya Gupta, Jamie Moore, Huy Nguyen, Melissa Parkin, Jessica Roy, Erich Stahl, Ellen Winchester, David Altshuler, Yan Shen, Zhijian Yao, Wei Huang, Xun Chu, Yungang He, Li Jin, Yangfan Liu, Yayun Shen, Weiwei Sun, Haifeng Wang, Yi Wang, Ying Wang, Xiaoyan Xiong, Liang Xu, Mary M.Y. Waye, Stephen K.W. Tsui, Hong Xue, J. Tze Fei Wong, Launa M. Galver, Jian Bing Fan, Sarah S. Murray, Arnold R. Oliphant, Mark S. Chee, Alexandre Montpetit, Fanny Chagnon, Vincent Ferretti, Martin Leboeuf, Jean François Olivier, Michael S. Phillips, Stéphanie Roumy, Clémentine Sallée, Andrei Verner, Thomas J. Hudson, Kelly A. Frazer, Dennis G. Ballinger, David R. Cox, David A. Hinds, Laura L. Stuve, Pui Yan Kwok, Dongmei Cai, Daniel C. Koboldt, Raymond D. Miller, Ludmila Pawlikowska, Patricia Taillon-Miller, Ming Xiao, Lap Chee Tsui, William Mak, Pak C. Sham, You Qiang Song, Paul K.H. Tam, Yusuke Nakamura, Takahisa Kawaguchi, Takuya Kitamoto, Takashi Morizono, Atsushi Nagashima, Yozo Ohnishi, Akihiro Sekine, Toshihiro Tanaka, Panos Deloukas, Christine P. Bird, Marcos Delgado, Emmanouil T. Dermitzakis, Rhian Gwilliam, Sarah Hunt, Jonathan Morrison, Don Powell, Barbara E. Stranger, Pamela Whittaker, David R. Bentley, Paul I.W. De Bakker, Jeff Barrett, Ben Fry, Julian Maller, Steve McCarroll, Nick Patterson, Itsik Pe'er, Shaun Purcell, Daniel J. Richter, Pardis Sabeti, Richa Saxena, Stephen F. Schaffner, Patrick Varilly, Lincoln D. Stein, Lalitha Krishnan, Albert Vernon Smith, Gudmundur A. Thorisson, Aravinda Chakravarti, Peter E. Chen, David J. Cutler, Carl S. Kashuk, Shin Lin, Gonçalo R. Abecasis, Weihua Guan, Heather M. Munro, Zhaohui Steve Qin, Daryl J. Thomas, Gilean McVean, Leonardo Bottolo, Susana Eyheramendy, Colin Freeman, Jonathan Marchini, Simon Myers, Chris Spencer, Matthew Stephens, Peter Donnelly, Lon R. Cardon, Geraldine Clarke, David M. Evans, Andrew P. Morris, Bruce S. Weir, Tatsuhiko Tsunoda, James C. Mullikin, Stephen T. Sherry, Michael Feolo, Houcan Zhang, Changqing Zeng, Hui Zhao, Ichiro Matsuda, Yoshimitsu Fukushima, Darryl R. Macer, Eiko Suda, Charles N. Rotimi, Clement A. Adebamowo, Ike Ajayi, Toyin Aniagwu, Patricia A. Marshall, Chibuzor Nkwodimmah, Charmaine D.M. Royal, Mark F. Leppert, Missy Dixon, Andy Peiffer, Renzong Qiu, Alastair Kent, Kazuto Kato, Norio Niikawa, Isaac F. Adewole, Bartha M. Knoppers, Morris W. Foster, Ellen Wright Clayton, Jessica Watkin, Richard A. Gibbs, Donna Muzny, Lynne Nazareth, Erica Sodergren, George M. Weinstock, Imtiaz Yakub, Stacey B. Gabriel, Robert C. Onofrio, Liuda Ziaugra, Bruce W. Birren, Mark J. Daly, Richard K. Wilson, Lucinda L. Fulton, Jane Rogers, John Burton, Nigel P. Carter, Christopher M. Clee, Mark Griffiths, Matthew C. Jones, Kirsten McLay, Robert W. Plumb, Mark T. Ross, Sarah K. Sims, David L. Willey, Zhu Chen, Hua Han, Le Kang, Martin Godbout, John C. Wallenburg, Paul L'Archevêque, Guy Bellemare, Koji Saeki, Hongguang Wang, Daochang An, Hongbo Fu, Qing Li, Zhen Wang, Renwu Wang, Arthur L. Holden, Lisa D. Brooks, Jean E. McEwen, Christianne R. Bird, Mark S. Guyer, Patrick J. Nailer, Vivian Ota Wang, Jane L. Peterson, Michael Shi, Jack Spiegel, Lawrence M. Sung, Jonathan Witonsky, Lynn F. Zacharia, Francis S. Collins, Karen Kennedy, Ruth Jamieson, John Stewart

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Abstract

Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.

Original languageEnglish
Pages (from-to)1299-1320
Number of pages22
JournalNature
Volume437
Issue number7063
DOIs
StatePublished - Oct 27 2005

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    Belmont, J. W., Boudreau, A., Leal, S. M., Hardenbol, P., Pasternak, S., Wheeler, D. A., Willis, T. D., Yu, F., Yang, H., Gao, Y., Hu, H., Hu, W., Li, C., Lin, W., Liu, S., Pan, H., Tang, X., Wang, J., Wang, W., ... Stewart, J. (2005). A haplotype map of the human genome. Nature, 437(7063), 1299-1320. https://doi.org/10.1038/nature04226