'Invaluable' database helps solve mystery of how genes are regulated

“This resource is invaluable” for anyone interested in particular diseases, or studying tissues or cell types, says Jan Korbel, a human geneticist at European Molecular Biology Laboratory (EMBL), Heidelberg.

The papers “are written in bureaucratese,” and the announced results are hard to decipher, says Dan Graur, an evolutionary biologist at the University of Houston and a well-known critic of big science.

“We shouldn’t pack up our bags and say gene expression is solved,” says genomicist Ewan Birney, deputy director general of EMBL, who led another big genomics project called ENCODE.

The heart of the GTEx database is a compilation of the complex relationships between stretches of regulatory DNA called expression quantitative trait loci, or eQTLs, and the genes they regulate.

Next, she blocked that DNA base using the genome editor CRISPR and confirmed that it alters NKX2-5 binding, Benaglio, Frazer, and their colleagues reported last year in Nature Genetics .

As the project winds down, the U.S. National Institutes of Health is planning a developmental GTEx that will enroll people under age 20 to create an atlas of gene expression from birth to adulthood.

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