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NIH Launches Genotype-Tissue Expression Project

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The National Institutes of Health said today that it has issued a number of new grants totaling roughly $21 million to fund several centers participating in its Genotype-Tissue Expression (GTEx) project.

Scientists will use the GTEx data to study findings from genome-wide association studies and as a resource for the study of gene expression networks.

The two-year pilot phase of the GTEx project will include funding for three biospecimen source sites and a lab and data analysis coordinating center. The biospecimen source sites will be led by the National Cancer Institute's cancer Human Biobank (caHUB) initiative and will be responsible for recruiting donors and collecting tissues.

"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," NIH Director Francis Collins said in a statement. "This resource will add a new dimension to our understanding of human biology and the mechanisms that lead to disease."

"This kind of study is now possible because of recent advances in DNA sequencing technologies and analytical tools," added National Human Genome Research Institute Director Eric Green, who is co-chair of the GTEx project. "GTEx will allow us to gain unprecedented insights into the influence of genetic variation on human health, "Green explained.

The first phase of the project will test the feasibility of collecting high-quality RNA for gene expression studies from 30 to 50 tissue sites in the body, including the brain, lung, heart, and muscle.

The sample tissues will come from around 160 deceased donors who were identified through autopsy or organ and tissue transplant programs, and a small group of normal tissues from living surgery patients will be used as a comparison group. Extensive clinical and medical information will be collected on all the donors, and each donor's DNA will be genotyped, RNA sequenced, and catalogued for their gene variants.

Grants funding the biospecimen source sites include $3.5 million for the National Disease Research Interchange (NDRI) in Philadelphia; $2 million to the Roswell Park Cancer Institute in Buffalo, NY; $750,000 to Science Care in Phoenix Ariz., and $362,000 to the Brain Endowment Bank at the University of Miami.

NDRI also will collaborate with a researcher at Virginia Commonwealth University, which received $283,000.

The lab and data analysis coordinating center grant will provide $11.4 million to the Broad Institute in Cambridge, Mass.

Grants funding development of statistical methods and data analysis tools include $642,000 to the University of Chicago for ways to use the transcriptome for SNPs and gene annotation; $662,000 to the University of Geneva for methods for high-resolution analysis of genetic effects on gene expression; $594,000 to Harvard University for epistatic and cross tissue analysis for human gene expression traits; $676,000 to the University of Chicago for statistical analysis; and $659,000 to the University of North Carolina at Chapel Hill for facilitating GTEx disease and gene-environment analysis.

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