Thanks to the eQTL Catalogue, released by EMBL-EBI, scientists can find correlations between single nucleotide polymorphisms (SNPs) and gene expression.
Researchers can now find correlations between single nucleotide polymorphisms (SNPs) and gene expression, using the eQTL Catalogue, released by EMBL’s European Bioinformatics Institute (EMBL-EBI) in collaboration with University of Tartu, Wellcome Sanger Institute and Open Targets.
The eQTL Catalogue provides consistently processed gene expression and splicing quantitative trait loci (QTL) from a range of studies on humans with a view to cover all available studies in a few years.
What are QTLs and what is a eQTL Catalogue?
QTLs are genetic variants that are significantly associated with a measurable phenotype. Expression QTLs (eQTLs) enable researchers to interpret genome-wide association studies (GWAS) in the light of the expression change of any gene. This means they can begin to associate non-coding GWAS SNP associations with a molecular mechanism, such as perturbed gene expression level or splicing.
The eQTL Catalogue focuses on expression cis-QTLs (cis-eQTLs), where variants are associated to expression levels of nearby genes, and on splicing QTLs (sQTLs), where variants are associated to specific splicing events within genes.
Why is it important?
“eQTL datasets are rare, but they are hugely valuable for the process of drug discovery,” says Daniel Zerbino, EMBL-EBI Group Leader. “We hope this new resource will help researchers to identify and pursue promising new drug targets.”
For example, the Open Targets Genetics Portal has already incorporated these data for drug target identification and prioritisation, which are freely available on a graphical user interface and through the EMBL-EBI FTP site.
The eQTL Catalogue processes public datasets using its uniform pipeline. The Catalogue currently provides access to 19 published datasets, but the aim is to cover all accessible published datasets on humans.
The datasets are downloadable via FTP or REST API and will soon be fully available in EMBL-EBI’s Ensembl and Expression Atlas resources.