pQTL Integration & Target Validation
Protein quantitative trait loci (pQTLs) — genetic variants that influence circulating protein levels — are among the most powerful tools for drug target validation. Genetic evidence from pQTLs substantially increases the probability of clinical success.
We integrate large-scale proteomics datasets (UKB-PPP, SomaScan, Olink) with disease GWAS to provide genetically supported target-disease links.
- cis-pQTL MR for target validation of druggable proteins
- trans-pQTL mapping to identify upstream regulatory mechanisms
- Integration with UK Biobank Pharma Proteomics Project (UKB-PPP)
- Colocalization to confirm shared signal at pQTL-disease loci
- Triangulation with clinical and trial data for confidence scoring
Target Validation Framework
Identify cis-pQTL
Extract cis-acting genetic instruments for the target protein from large-scale proteomics GWAS
MR with Disease GWAS
Use pQTL instruments in MR to test whether protein levels causally influence the disease outcome
Colocalization
Confirm pQTL and disease signals share a causal variant — ruling out LD contamination
Evidence Triangulation
Score overall target confidence integrating genetic, functional, and clinical evidence streams
