A haplotype map of the human genome

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...

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Bibliographic Details
Published inNature (London) Vol. 437; no. 7063; pp. 1299 - 1320
Main Authors Gibbs, Richard A, Belmont, John W, Boudreau, Andrew, Leal, Suzanne M
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 27.10.2005
Nature Publishing
Nature Publishing Group
Subjects
Biological and medical sciences
Biological variation
Chromosomes, Human, Y - genetics
Deoxyribonucleic acid
Disease
DNA
DNA, Mitochondrial - genetics
Fundamental and applied biological sciences. Psychology
Gene Frequency - genetics
Gene loci
Genetic diversity
Genetics of eukaryotes. Biological and molecular evolution
Genome, Human
Genomics
Genotype & phenotype
Genotypes
Haplotypes - genetics
Humanities and Social Sciences
Humans
Linkage Disequilibrium - genetics
multidisciplinary
Polymorphism
Polymorphism, Single Nucleotide - genetics
Recombination, Genetic - genetics
Science
Science (multidisciplinary)
Selection, Genetic
Human
Genetic variability
Genetic variant
Genotype
Single nucleotide polymorphism
Genome
Haplotype
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Summary: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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Lists of participants and affiliations appear at the end of the paper.
ISSN:0028-0836
1476-4687
1476-4687
DOI:10.1038/nature04226