Phase I of HapMap Complete

International consortium publishes most comprehensive catalog of human genetic variation to date

Written byDavid Secko
| 3 min read

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Researchers have released a public database of human genetic variation, designed to help scientists study the effects of small genetic differences on health, reports an international consortium in this week's Nature. The findings suggest that only 260,000 to 470,000 single nucleotide polymorphisms (SNPs) are needed to capture all the common genetic variation in the populations studied, despite the fact that there are an estimated 10 million common SNPs in the human genome.

The HapMap, launched in 2002 by the International HapMap Consortium, is a catalogue of millions of SNPs that maps the natural organization of the human genome in blocks called haplotypes. "The HapMap is a resource that ushers in a new era of disease studies by effectively allowing all the common variation in the human genome to be compared," said Peter Donnelly, from University of Oxford, UK, and one of the authors of the paper.

However, in the past, ...

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