NIH completes detailed atlas of differences in human DNA

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National Institutes of Health-funded researchers have created a detailed atlas documenting the stretches of human DNA that influence gene expression and its regulation across multiple tissue types.

The atlas, serving as a critical resource for the scientific community to better understand the relationships between genotype and disease, is the result of work by the Genotype-Tissue Expression (GTEx) Consortium, which collected data from more than 50 different tissue types—including brain, liver and lung—from autopsy, organ donations and tissue transplant programs.

The data are currently available to the public through the GTEx Portal, designed for storing, cataloging, searching and sharing aggregated level data, as well as the raw data found in the Database of Genotypes and Phenotypes (dbGaP), which was developed to archive and distribute the data and results from studies that have investigated the interaction of genotype and phenotype in humans.

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“GTEx depended entirely on families choosing to donate biosamples for research after the death of a loved one,” said Susan Koester, deputy director for the Division of Neuroscience and Basic Behavioral Science and GTEx program director at the National Institute of Mental Health.

According to NIH, the GTEx project—which was launched in 2010 and concluded this summer— continues to house a biobank of collected tissue samples, as well as extracted DNA and RNA for future studies by independent researchers. The overall aim of GTEx was to create a public atlas of human DNA, enabling the research community to dissect the effect of genetic variation and gene expression, and to aid in the functional interpretation of genetic associations with disease.

“Although the GTEx project has officially wrapped up, plans for future work are already underway,” according to an NIH announcement. “This work is being conducted on the same tissues as in the GTEx project, providing a richer resource that integrates the complexity of how our genomes function in biologically meaningful ways.”

The project, called Enhancing GTEx (eGTEx), combines gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.

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