A haplotype map of the human genome

作者：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

来源：Nature, 2005, 437(7063): 1299-1320.

DOI：10.1038/nature04226

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.

• 单位
  new; 香港科技大学; 香港大学; 2; MIT; 河北医科大学; 中国科学院北京基因组研究所; 上海人类基因组研究中心; 6; bpotest; 1; 中国社会科学院; 北京师范大学; 香港中文大学