articleNatureOct 1, 2005HYBRID OA

A haplotype map of the human genome

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PubMed
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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…

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Topics & keywords

Topics
Keywords
  • International HapMap Project
  • Haplotype
  • Linkage disequilibrium
  • Haplotype estimation
  • Genetics
  • Biology
  • Human genome
  • Single-nucleotide polymorphism
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