A haplotype map of the human genome.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • International HapMap Consortium,

Published Date

  • October 2005

Published In

Volume / Issue

  • 437 / 7063

Start / End Page

  • 1299 - 1320

PubMed ID

  • 16255080

Pubmed Central ID

  • PMC1880871

Electronic International Standard Serial Number (EISSN)

  • 1476-4687

International Standard Serial Number (ISSN)

  • 0028-0836

Digital Object Identifier (DOI)

  • 10.1038/nature04226


  • eng