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Freely available data supporting next generation of human genetic research
Date:6/21/2010

ound regions of the genome associated with disease will be able to look at this data to see an almost complete set of genetic variants in those regions that might contribute directly to disease."

A critical new component of the Project is the selection of 2,500 DNA samples from 27 populations around the world. Each participant has provided explicit consent for full and public release of DNA samples and full sequence data (including recognition of potential risks). The free and public availability of Project data will fuel development of new methods and new approaches to genetic research applications that would happen much more slowly (if at all) if there were only disease-specific datasets that can't be shared freely on the web (due to more restrictive informed consent).

"We are committed to make these data public to make certain that any institution or researcher around the world can access and work with our datasets to better understand common disease," said Jun Wang, PhD, associate director of the Beijing Genomics Institute in Shenzhen, China, and member of the 1000 Genomes Project steering committee. "We must work together if we are going to find those subtle differences in the human genome that lead to diseases like cancer and diabetes."

The uses of Project data will be many. One clear use is to track down the causal mutations underlying initial localizations from GWAS. A second is making it possible to test less common DNA variants for contributions to disease. And a third is to help identify rare mutations that cause strongly inherited diseases: in studies aiming to find such rare mutations, it is very helpful to have a complete database of common variants that can be screened out to focus attention on those mutations that are unique to an individual or family.

But before such uses could be realised, many technical and analytical challenges had to be overcome. These were the focus of the pilot projects.

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Contact: Don Powell
press.officer@sanger.ac.uk
44-012-234-96928
Wellcome Trust Sanger Institute
Source:Eurekalert

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