Elizabeth Pennisi in Science:
When the human genome was sequenced almost 20 years ago, many researchers were confident they’d be able to quickly home in on the genes responsible for complex diseases such as diabetes or schizophrenia. But they stalled fast, stymied in part by their ignorance of the system of switches that govern where and how genes are expressed in the body. Such gene regulation is what makes a heart cell distinct from a brain cell, for example, and distinguishes tumors from healthy tissue. Now, a massive, decadelong effort has begun to fill in the picture by linking the activity levels of the 20,000 protein-coding human genes, as shown by levels of their RNA, to variations in millions of stretches of regulatory DNA.
By looking at up to 54 kinds of tissue in hundreds of recently deceased people, the $150 million Genotype-Tissue Expression (GTEx) project set out to create “one-stop shopping for the genetics of gene regulation,” says GTEx team member Emmanouil Dermitzakis, a geneticist at the University of Geneva. In a brace of papers in Science, Science Advances, Cell, and other journals this week, GTEx researchers roll out the final big analyses of these free, downloadable data, as well as tools for further exploiting the data.