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NIH Awards $21M for Two-Year Pilot for Genotype-Expression Tissue Project

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The National Institutes of Health last week awarded around $21 million in grants to support a two-year pilot study for the Genotype-Tissue Expression project, which will study the effect of genetic variation on gene activity and its relationship to disease.

"GTEx will begin to provide researchers with a comprehensive view of genetic variation and a more precise understanding of how it affects genes critical to the normal function of tissues and organs," said NIH Director Francis Collins in a statement. "This resource will add a new dimension to our understanding of human biology and the mechanisms that lead to disease."

In its initial phase, GTEx will test the feasibility of collecting high-quality RNA from 30 to 50 tissue sites, including brain, lung, heart, and muscle. The tissues will come from approximately 160 dead donors as well as from surgery patients, who will provide normal tissues. All GTEx samples will have extensive clinical and medical documentation. DNA from each donor will be genotyped, and RNA from each tissue will be sequenced.

"This kind of study is now possible because of recent advances in DNA sequencing technologies and analytical tools," said Eric Green, director of the National Human Genome Research Institute, who co-chairs the project, in a statement.

The pilot project comprises three biospecimen source sites and one laboratory data analysis and coordinating center.

The biospecimen source sites, led by the National Cancer Institute's Cancer Human Biobank initiative, are the National Disease Research Interchange in Philadelphia, which is receiving $3.5 million; the Roswell Park Cancer Institute in Buffalo, NY, which has been awarded $2 million; and Science Care in Phoenix, Ariz., which is receiving $750,000. They will recruit donors and collect the tissues.

The Broad Institute, which is receiving $11.4 million, will be the laboratory, data analysis and coordinating center for the project. It will be responsible for the overall coordination of GTEx activities and will provide molecular and statistical analyses.

Five other researchers are receiving a total of $3.2 million in funding under another component of the GTex pilot project that will foster the development of improved statistical methods to analyze the data.

In addition, the National Center for Biotechnology Information will develop the GTEx database and will also provide a controlled-access system for de-identified individual-level genotype, expression, and clinical data through its database of Genotypes and Phenotypes.

GTEx is funded through the NIH Common Fund, which encourages collaboration and supports several exceptionally high impact, trans-NIH programs.

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