NIH completes atlas of human DNA differences that influence gene expression

News Release

Wednesday, October 11, 2017

Researchers funded by the National Institutes of Health have completed a detailed atlas documenting the stretches of human DNA that influence gene expression – a key way in which a person’s genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences, like healthy and diseased states, across human tissues and cell types.

The atlas is the culmination of work from the Genotype-Tissue Expression (GTEx) Consortium, established to catalog how genomic variation influences how genes are turned off and on.

“GTEx was unique because its researchers explored how genomic variation affects the expression of genes in individual tissues, across many individuals, and even within an individual,” said Simona Volpi, Ph.D , program director for GTEx at the National Human Genome Research Institute (NHGRI), who oversaw various parts of the project.

According to Dr. Volpi, there was previously no resource at the scale used by GTEx that enabled researchers to study how gene expression in the liver might be different than in the lung or heart, for example, and how those differences relate to the inherited genomic variation in an individual.

Researchers involved in the GTEx Consortium collected data from more than 53 different tissue types (including brain, liver and lung) from autopsy, organ donations and tissue transplant programs. These tissues came from a approximately 960 donors in total.

“GTEx depended entirely on families choosing to donate biosamples for research after the death of a loved one,” said Susan Koester, Ph.D., deputy director for the Division of Neuroscience and Basic Behavioral Science and GTEx program director at the National Institute of Mental Health (NIMH). “GTEx researchers are deeply grateful for this priceless gift.”

The project continues to…

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