1,000 Genomes Project seeks genetic underpinnings of diseases

Anthony Brino | Government Health IT | November 1, 2012

The 1,000 Genomes Project, an international public-private consortium, has doubled the number of sequenced genomes in its open source catalog of human genomic variations — a great aid, researchers say, in medical efforts to find genetic underpinnings of diseases and individually target treatment.

Funded in part by the National Institutes of Health, with researchers from the U.S., Britain, China, Germany and Canada, the 1000 Genomes Project is trying to catalog variants in the human genome occurring at least in 1 out of 50 people, in an effort to identify common and rare genomic variations. So far the project has mapped the genomes of 1,092 people from 14 populations in Europe, East Asia, sub-Saharan Africa and the Americas.

The findings, published in the October 31 issue of Nature, “provide deeper insights about the presence and pattern of variants in different people's genomes, which is critical information for studying the genomic basis of human disease,” said Eric Green, MD, director of the U.S. National Human Genomic Research Institute.

All of this in an open source, cloud-based database should expand opportunities for current research and treatment and could help with the commercialization of individual genomic analysis.