A haplotype map of the human genome

By Michael Olivier. 2003

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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.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

Population Structure and Eigenanalysis (2006, background): “For instance, in the International Haplotype Map project [ 26 ], markers were chosen about 5,000 bases apart (phase 1), or about 1,000 bases apart (phase 2), and so nearby markers will often be in LD. Mathematically this will induce correlation between nearby columns of our matrix M. The effect of t”
Database mining for selection of SNP markers useful in admixture mapping (2009, background): “There are ~5.8 million SNPs in the combined phase 1 and phase 2 HapMap projects [ 26 ,27].”