Genotype-Tissue Expression Project expands functional studies of genomic variation

Aug. 4, 2014

The National Institutes of Health has awarded eight grants as part of the Genotype-Tissue Expression (GTEx) Project to explore how human genes are expressed and regulated in different tissues, and the role that genomic variation plays in modulating that expression. The GTEx awards will contribute to a resource database and tissue bank that researchers can use to study how inherited genomic variants—inherited spelling changes in the DNA code—may influence gene activity and lead to disease. The grants will add data from analyses of tissue samples whose collection began in 2010, as well as expand the resource database and tissue bank.

“The new studies complement the current GTEx Project in assessing genomic variation and gene expression,” explains Simona Volpi, PharmD, PhD, GTEx program director in the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI), which helps administer the program. “They delve deeper into what is happening in tissues on a molecular basis to explain how genomic variation affects how genes work. Ultimately, GTEx will provide an atlas of human gene expression.”

The groups plan to further characterize gene activity in tissues by analyzing several molecular phenotypes, or properties of cells—such as which genes are turned on and off, the various ways genes are regulated, and the proteins that cells produce based on such regulation. They will examine part of the more than 30 tissue types available, which were collected through autopsies or organ and tissue transplant programs. The project will eventually include samples from about 900 deceased donors. Researchers will analyze DNA and RNA from the samples to identify and catalog genomic variants and gene expression. Learn more about the GTEx program.

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