Open Targets
Summary¶
Open Targets is a large-scale, public-private partnership generating and integrating evidence for the validity of therapeutic targets. Its platforms (Open Targets Platform and Open Targets Genetics) aggregate genome-wide association studies (GWAS), functional genomics, eQTLs, pathways, and known drug information to compute target-disease association scores and fine-map genetic variants to causal genes.
Capabilities and Limitations¶
The platform utilizes a Variant-to-Gene (V2G) mapping pipeline that relies on physical proximity, molecular QTLs (e.g., from GTEx), chromatin interaction data (e.g., Hi-C), and computational predictions.
While highly robust for well-conserved or broadly expressed elements, its reliance on existing reference datasets means it can occasionally misassign target genes if a regulatory element is highly state-dependent or cell-type specific and not captured by standard annotation pipelines (e.g., as seen with the adipocyte-specific enhancer rs603424 regulating SCD, which is often assigned to the proximal PKD2L1 by naive pipelines).