publication . Article . Other literature type . 2007

A second generation human haplotype map of over 3.1 million SNPs

Daniel Richter;
  • Published: 18 Oct 2007 Journal: Nature, volume 449, issue 7,164 (issn: 0028-0836, eissn: 1476-4679, Copyright policy)
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 r 2 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 r 2 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...
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Other literature type . 2007
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Other literature type . 2007
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