An international consortium today published a third-generation map of human genetic variation, called the HapMap, which includes data from an additional seven global populations, increasing the total number to 11 populations. The improved resolution will help researchers interpret current genome studies aimed at finding common and rarer genetic variants associated with complex diseases.
Any two humans are more than 99 percent the same at the genetic level. But, the small fraction of genetic material that varies among people 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 neighborhoods called haplotypes, which usually are inherited as intact blocks of DNA sequence information. Consequently, researchers refer to the map of human genetic variation as a haplotype map, or HapMap.
"The generated HapMap provides an important foundation for studies aiming to find genetic variation related to human diseases. It is now routinely used by researchers as a valuable reference tool in our quest to use genomics for improving human health," said Eric D. Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), a part of the National Institutes of Health, which provided major funding for the HapMap Project.
The most common genetic differences among people are SNPs, single-nucleotide polymorphisms. Each SNP reflects a specific position in the genome where the DNA spelling differs by one letter in different people. SNPs serve as landmarks across the genome. The initial version of the HapMap contained approximately 1 million SNPs, and the second-generation map brought that total to more than 3.1 million SNPs. Over the last few years, researchers conducting genome-wide association studies have relied on publicly available data from the HapMap to discover hundreds of common genetic variants ass
|Contact: Geoff Spencer|
NIH/National Human Genome Research Institute