A haplotype map of the human genome.

TitleA haplotype map of the human genome.
Publication TypeJournal Article
Year of Publication2005
Corporate AuthorsInternational HapMap Consortium
JournalNature
Volume437
Issue7063
Pagination1299-320
Date Published2005 Oct 27
ISSN1476-4687
KeywordsChromosomes, Human, Y, DNA, Mitochondrial, Gene Frequency, Genome, Human, Haplotypes, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Recombination, Genetic, Selection, Genetic
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.

DOI10.1038/nature04226
Alternate JournalNature
PubMed ID16255080
PubMed Central IDPMC1880871
Grant ListR01 HG001720 / HG / NHGRI NIH HHS / United States
R01 HG001720-06 / HG / NHGRI NIH HHS / United States