What problem does it solve?
Confirming whether two genome-wide association signals (e.g. a GWAS hit and an eQTL signal) share the same causal variant at a locus normally requires manual data harmonisation, LD computation, and plotting across multiple tools. This Skill automates the full pipeline and produces the canonical Liu 2019 LocusCompare 4-panel diagnostic figure with full reproducibility provenance.
Core Features & Use Cases
- 4-panel regional visualisation: Overlays an outcome GWAS Manhattan, an exposure QTL Manhattan, a GENCODE gene track, and a cross-trait -log10(p) scatter colored by LD r² to the lead variant.
- Flexible data inputs: Accepts pre-fetched harmonised sumstats TSVs in a canonical schema, or fetches regions on demand from the eQTL Catalogue, GWAS Catalog, UKB-PPP pQTL, 1000 Genomes (LD via plink), and Ensembl REST (gene track).
- Reproducibility by default: Every run emits a YAML manifest with source releases, plink version, palindromic-exclusion counts, SHA-256 checksums, and a rerunnable commands.sh.
- Use Case: Given the SORT1 eQTL study and a cholesterol GWAS, render the regional LocusCompare plot around lead variant 1_109274968_G_T to visually confirm colocalization before citing the formal coloc PP-H4 in a target-validation report.
Quick Start
Ask the agent to render a LocusCompare plot for lead variant 1_109274968_G_T using the bundled synthetic demo, or point it at a YAML config naming your exposure and outcome summary-statistics files.