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A second generation human haplotype map of over 3.1 million SNPs.

作者信息

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

机构信息

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

出版信息

Nature. 2007 Oct 18;449(7164):851-61. doi: 10.1038/nature06258.


DOI:10.1038/nature06258
PMID:17943122
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2689609/
Abstract

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.

摘要

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