Journal
NATURE
Volume 437, Issue 7063, Pages 1299-1320Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature04226
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- NHGRI NIH HHS [R01 HG001720-06, R01 HG001720] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
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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.
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