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A haplotype map of the human genome (2005)_香港中文大学

香港中文大学 辅仁网/2017-06-25

A haplotype map of the human genome
Publication in refereed journal


香港中文大学研究人员 ( 现职)
韦妙宜教授 (那打素护理学院)
徐国荣教授 (生物医学学院)


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引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/3491WOS source URL

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摘要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.

着者Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P, Gibbs RA, Belmont JW, Boudreau A, Leal SM, Hardenbol P, Pasternak S, Wheeler DA, Willis TD, Yu FL, Yang HM, Zeng CQ, Gao Y, Hu HR, Hu WT, Li CH, Lin W, Liu SQ, Pan H, Tang XL, Wang J, Wang W, Yu J, Zhang B, Zhang QR, Zhao HB, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Shen Y, Yao ZJ, Huang W, Chu X, He YG, Jin L, Liu YF, Shen YY, Sun WW, Wang HF, Wang Y, Wang Y, Wang Y, Xiong XY, Xu L, Waye MMY, Tsui SKW, Xue H, Wong JTF, Galver ILM, Fan JB, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallee C, Verner A, Hudson TJ, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Kwok PY, Cai DM, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Sham PC, Song YQ, Tam PKH, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PIW, Barrett J, Fry B, Maller J, McCarroll S, Patterson N, Pe'er I, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Varilly P, Stein LD, Krishnan L, Smith AV, Thorisson GA, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan WH, Munro HM, Qin ZHS, Thomas DJ, McVean G, Bottolo L, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Zhang HC, Zeng CQ, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CDM, Leppert MF, Dixon M, Peiffer A, Qiu RZ, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Richter DJ, Ziaugra L, Birren BW, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, Archeveque PL, Bellemare G, Saeki K, Wang HG, An DC, Fu HB, Li Q, Wang Z, Wang RW, Holden AL, Brooks LD, McEwen JE, Bird CR, Guyer MS, Nailer PJ, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Witonsky J, Zacharia LF, Kennedy K, Jamieson R, Stewart J
期刊名称Nature
出版年份2005
月份10
日期27
卷号437
期次7063
出版社NATURE PUBLISHING GROUP
页次1299 - 1320
国际标準期刊号0028-0836
电子国际标準期刊号1476-4687
语言英式英语

Web of Science 学科类别Multidisciplinary Sciences; MULTIDISCIPLINARY SCIENCES; Science & Technology - Other Topics

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