HapMap phase 2

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HapMap phase 2

Postby dignan » Thu Oct 18, 2007 6:56 am

A new, improved version of the Hap Map has been released.

"In its overview paper in Nature, the consortium estimates that the Phase II HapMap captured 90 to 96 percent of common genetic variation in the populations surveyed."


Consortium Publishes Phase II Map of Human Genetic Variation

New map improves power to find variants involved in common diseases; reveals more signs of human evolutionary history

The International HapMap Consortium today published analyses of its second-generation map of human genetic variation, which contains three times more markers than the initial version unveiled in 2005. In two papers in the journal Nature, the consortium describes how the higher resolution map offers greater power to detect genetic variants involved in common diseases, explore the structure of human genetic variation and learn how environmental factors, such as infectious agents, have shaped the human genome. The first phase of HapMap is already revolutionising our ability to study the genetic basis of human disease.

Any two humans are more than 99 percent the same at the genetic level. However, it is important to understand the small fraction of genetic material that varies among people because it can help explain individual differences in susceptibility to disease, response to drugs or reaction to environmental factors. Variation in the human genome is organized into local neighbourhoods, called haplotypes, that usually are inherited as intact blocks of information. Consequently, researchers refer to the map of human genetic variation as a haplotype map, or HapMap.

The Phase II HapMap contains more than 3.1 million genetic variants, called single nucleotide polymorphisms (SNPs) - three times more than in the initial version. The more SNPs that are on the map, the more precisely researchers can focus their hunts for genetic variants involved in disease. The rapid growth of genome-wide association studies over the past year and half has been fuelled by the HapMap consortium's decision to make its SNP datasets immediately available in public databases, even before the first and the second versions of the map were fully completed.

for the rest of the press release:
http://www.sanger.ac.uk/Info/Press/2007/071017.shtml
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