The 1000 Genomes Project more than doubles catalog of human genetic variation

NIH: October 31, 2012

The world’s largest, most detailed catalog of human genetic variation — used by disease researchers around the world — has more than doubled in size with the 1000 Genomes Project’s latest publication in the Oct. 31 issue of Nature. The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, helps fund and direct this international public-private consortium of researchers in the United States, Britain, China, Germany and Canada.

Genetic variation explains part of why people look different and vary in their risk for diseases. The goal of the 1000 Genomes Project is to identify and compile variants in the human genome that occur at a frequency of at least 1 in 50 people. Although most of these genetic variants cause little if any effect, some contribute to disease, and others are beneficial. An example of a beneficial difference is a rare genetic variant that blocks the human immunodeficiency virus from infecting white blood cells and, thus, protects people exposed to HIV who carry this variant.  Read more