Overview
The aim of Open Targets Genetics is to aggregate evidence linking (i) variants to disease, and (ii) variants to genes, so that for a specific disease potential drug targets can be prioritised based on robust genetic information.
Molecular phenotype quantitative trait loci experiments (e.g. eQTLs and pQTLs)
Chromatin interaction experiments (e.g. Promoter Capture Hi-C)
In silico functional predictions (e.g. Variant Effect Predictor from Ensembl)
Distance from the canonical transcript start site (TSS)
For each variant, the pipeline first assigns functional evidence to variant-gene pairs (V, G) across all sources, then applies a scoring algorithm to produce aggregated V2G scores. Detailed methods can be found here.
Last updated