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.
journal_name
Naturejournal_title
Natureauthors
International HapMap Consortium.doi
10.1038/nature04226keywords:
subject
Has Abstractpub_date
2005-10-27 00:00:00pages
1299-320issue
7063eissn
0028-0836issn
1476-4687journal_volume
437pub_type
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