The most comprehensive international collaborative analysis to date of the impact of variants on gene expression has revealed thousands of previously unknown regulatory genomic regions controlling disease-linked genes, representing a major advance in genomics-driven precision medicine.
The Genotype-Tissue Expression (GTEx) project, a multiyear, multi-institutional attempt to catalog how expression quantitative trait loci (eQTL) and splicing quantitative trait loci (sQTL) affect protein levels, reported data from its final phase in 15 papers in the Sept, 10, 2020, online issues of the Science and Cell family of journals, as well as in Genome Biology.
