A haplotype map of the human genome.

@article{citeulike:404250, 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.}, address = {The Broad Institute of Harvard and Massachusetts Institute of Technology, 1 Kendall Square, Cambridge, Massachusetts 02139, USA. altshuler@molbio.mgh.harvard.edu}, author = {Altshuler, D. and Brooks, L. D. and Chakravarti, A. and Collins, F. S. and Daly, M. J. and Donnelly, P. and }, citeulike-article-id = {404250}, doi = {10.1038/nature04226}, issn = {1476-4687}, journal = {Nature}, keywords = {african, genome, hap, haplotype, map, variation}, month = {October}, number = {7063}, pages = {1299--1320}, posted-at = {2005-11-22 06:25:02}, priority = {5}, title = {A haplotype map of the human genome.}, url = {http://dx.doi.org/10.1038/nature04226}, volume = {437}, year = {2005} }

TY - JOUR ID - citeulike:404250 L3 - citeulike-article-id:404250 TI - A haplotype map of the human genome. JF - Nature VL - 437 IS - 7063 SP - 1299 EP - 1320 AD - The Broad Institute of Harvard and Massachusetts Institute of Technology, 1 Kendall Square, Cambridge, Massachusetts 02139, USA. altshuler@molbio.mgh.harvard.edu SN - 1476-4687 N2 - 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. KW - african KW - genome KW - hap KW - haplotype KW - map KW - variation AU - Altshuler, D AU - Brooks, LD AU - Chakravarti, A AU - Collins, FS AU - Daly, MJ AU - Donnelly, P PY - 2005/10/27/ UR - http://dx.doi.org/10.1038/nature04226 ER -