What problem does it solve?
Researchers running colocalisation, fine-mapping, or Mendelian randomisation against a protein exposure need per-variant pQTL summary statistics (beta, SE, p-value) for a specific genomic window, but UKB-PPP releases data as large per-protein tar archives on Synapse that require authentication, manual download, and format harmonisation before use.
Core Features & Use Cases
- Regional pQTL slicing: Resolves a protein by HGNC symbol or UniProt accession, downloads the per-protein REGENIE archive, and extracts harmonised per-variant rows for any GRCh38 window across seven ancestry strata.
- Offline bundled slices: Ships pre-computed gzipped JSON slices (e.g. SORT1 / EUR at the 1p13.3 LDL/CHD locus) that run with no Synapse account or network access.
- Provenance-rich outputs: Writes a variants.tsv in Open Targets chr_pos_ref_alt ALT-effect convention, a manifest.yaml with release and cohort metadata, and a human-readable report.md.
- Use Case: An agent building a multi-modality coloc render fetches the SORT1 plasma pQTL cis-window in European ancestry and joins it directly against eQTL Catalogue and GWAS Catalog feeds without extra harmonisation.
Quick Start
Ask the agent to fetch the SORT1 plasma pQTL summary statistics for chromosome 1 positions 108774968 to 109774968 in European ancestry from UKB-PPP using the bundled demo.