A second generation human haplotype map of over 3.1 million SNPs Public Deposited

Downloadable Content

Download PDF
  • Li, Yun
    • Affiliation: School of Medicine, Department of Genetics, Gillings School of Global Public Health, Department of Biostatistics
  • The International HapMap Consortium
  • We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10–30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
Date of publication
  • doi:10.1038/nature06258
  • 2-s2.0-35348983887
Related resource URL
Resource type
  • Article
Rights statement
  • In Copyright
Journal title
  • Nature
Journal volume
  • 449
Journal issue
  • 7164
Page start
  • 851
Page end
  • 861
  • English
  • Postprint
  • 1476-4687

This work has no parents.