Phenome-Wide Association Studies
PheWAS systematically tests a genetic variant or exposure against hundreds of phenotypes simultaneously — giving a panoramic view of biology that single-outcome studies miss.
We conduct both SNP-level PheWAS (characterising a specific locus) and MR-PheWAS (propagating a causal exposure estimate across the phenome) — ideal for drug target characterisation, safety profiling, and repurposing.
- PheWAS across UK Biobank, FinnGen, UKBB-PPP and IEU Open GWAS
- MR-PheWAS to characterise causal effects across phenome
- ICD code-based phenotype groupings with visualisation
- Multiple testing correction: FDR and Bonferroni thresholds
- On-target vs. off-target signal interpretation for drug programmes
PheWAS Applications
Drug Target Safety Profiling
Test a genetic proxy of the drug target across all phenotypes to anticipate on- and off-target clinical effects
Indication Discovery
Identify novel indications with significant causal signals — repurposing opportunities missed by traditional biology
Biomarker Characterisation
Map the causal consequences of a circulating biomarker across the phenome to assess therapeutic potential
Risk Factor Mapping
Causally characterise modifiable exposures (e.g. BMI, lipids, glycaemic traits) across cardiovascular, metabolic, and neurological outcomes
