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.

  1. Molecular phenotype quantitative trait loci experiments (e.g. eQTLs and pQTLs)

  2. Chromatin interaction experiments (e.g. Promoter Capture Hi-C)

  3. In silico functional predictions (e.g. Variant Effect Predictor from Ensembl)

  4. 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.

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