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Program Highlights

GTEx Reaches Midpoint Milestone                   

The GTExPortal  was just updated! This latest version of sequence data encompasses roughly half of the anticipated 960 postmortem donors. This release includes genotype data from approximately 450 donors and over 9600 RNA-seq samples across 51 tissue sites and 2 cell lines, with adequate power to detect Expression Quantitative Trait Loci in 44 tissues. Full gene and isoform expression datasets are available for download through the GTEx Portal while genotypes and RNA-seq bam files are available via dbGaP.



GTEx Scientists Investigate Sex Differences.

Studying Sex Differences Sex and gender play a role in how health and disease differ across individuals, and considering these factors during research informs the development of preventive and therapeutic interventions for both sexes. Learn how supplements to GTEx grants are enabling researchers to investigate sex as a biological variable.



Scientists Use GTEx Data to Help Predict Genes Associated with Disease

Hand with DNA ribbon wrapped around itResearchers at the University of Chicago and their collaborators have developed PrediXcan, a computational method that links genetic variation and gene activity to disease traits. The method uses gene activity datasets like the Genotype-Tissue Expression (GTEx) data to train the computer to associate certain genetic profiles with certain diseases. The technique has important implications for linking genetics to disease susceptibility.


A Gene-Based Association Method for Mapping Traits Using Reference Transcriptome Data. Eric R Gamazon, Heather E Wheeler, Kaanan P Shah, Sahar V Mozaffari, Keston Aquino-Michaels, Robert J Carroll, Anne E Eyler, Joshua C Denny, GTEx Consortium, Dan L Nicolae, Nancy J Cox & Hae Kyung Im. Nature Genetics. August, 2015. doi:10.1038/ng.3367. Read the article abstract.

Read an article describing the research.



GTEx Community Scientific Meeting

Body with organs and DNAThe 2015 GTEx Project Community Meeting was held at the University of Chicago on June 23rd - 24th. Delivered talks included statistical and molecular analyses, pathology reports, ethical, legal and sociological issues, and the updated GTEx portal.

View the Meeting Flyer    
View the Meeting Agenda        
View the Poster Presenter List 



GTEx Symposium: All Things Considered - Biospecimens, 'Omics Data, and Ethical Issues

GTEx Symposium: All things considered — Biospecimens, 'Omics Data, and Ethical IssuesThis 2 day symposium took place on the NIH Campus May 20-21, 2015. It covered a broad range of topics that focused on the collection of normal biospecimens for GTEx and the scientific discoveries made possible by the biospecimens. The symposium was open to the public.

View the Symposium Website.
View & Download the Symposium Agenda.
Watch the archived videocasts of Day 1 of the Symposium and Day 2 of the Symposium.



New Resource Shows How Differences in DNA Affect Gene Activity and Disease SusceptibilityTissue Sampling for the Genotype-Tissue Expression Project

We have known for many years that differences in the DNA that codes for our genes affect everything from our eye color to our susceptibility for certain diseases. Now we are finding that differences in genes are only part of the story. Differences in DNA that control when and how much genes are turned on and off can have a profound impact on health and disease. Researchers funded by the Genotype-Tissue Expression (GTEx) program have created a new data resource to help find out how differences in an individual’s genetic make-up can affect gene activity and contribute to disease.
Scientists can use the new resource to examine genes and gene regulation in many different types of human tissues at the same time. Investigators are collecting more than 30 tissue types from autopsy or organ donations and tissue transplant programs, and analyzing both DNA and RNA from samples. The project will eventually include tissue samples from about 900 deceased donors.

The resource is already beginning to bear fruit. One study looked at mutations called protein-truncating variants which shorten the protein-coding sequence of genes. Rare protein-truncating variants can lead to diseases like Duchenne muscular dystrophy. Most protein-truncating variants are harmless, and researchers found that each person’s genome carries about 100 of them. Another study looked at gene activity in a variety of tissues from multiple donors. Researchers found slightly fewer than 2,000 genes that vary with age, including genes related to Alzheimer’s disease. They also found more than 750 genes with differences in activity between men and women, with most in breast tissue.


The Genotype-Tissue Expression (GTEx) Pilot Analysis: Mutitissue Gene Regulation in Humans. The GTEx Consortium. Science, May 2015, Vol. 348 no. 6235 pp. 648-660. Read the article abstract

Read the NIH Press Release.

Read more about the Genotype-Tissue Expression (GTEx) program here.

A list of companion papers to the GTEx Pilot Analysis is available via the GTEx Portal website.



Schematic of Genotype-Tissue Expression Programs tissue collection and analysis processGTEx Project Expands Functional Studies of Genetic Variation

Eight Genotype-Tissue Expression grants will contribute to a resource database and tissue bank researchers can use them to study how inherited genomic variants — inherited spelling changes in the DNA code — may influence gene activity and lead to disease. Read the Press Release from the NIH National Human Genome Research Institute.





GTEx Biospecimens Access Policy Goes Live

In October of 2013, a mechanism was put in place to allow researchers access to banked GTEx biospecimens. The goal of this policy is to facilitate the efficient use of this valuable resource. Requests to access the biospecimens can be made either through a "Short" or "Full" Sample Availability/Access Request, depending on the size and scope of the project and whether grant funding for the work is already in place, among other factors. More information on the GTEx Biospecimens Access Policy and related forms can be found on the GTEx Portal Sample Request Forms page. The Access Policy can also be viewed directly here.



GTEx pilot project described as one of the most ambitious tissue-collection studies - Nature’s Technology Feature “Building Better Biobanks

The June 2012 issue of Nature, highlights efforts being made to store high-quality, data-rich biological samples that are essential for research. In the article, GTEx Coordinator Dr. Jeff Struewing, M.D., M.S. (NHGRI) and other members of the GTEx Working Group discuss the various steps throughout the collection process where attention to detail results in high-quality specimens.

Reference: Nature 2012 June; Volume 486 “



The Genotype-Tissue Expression (GTEx) project Commentary is featured in Nature Genetics

The June 2013 issue of Nature Genetics highlights the GTEx project published by the GTEx Consortium.


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