🎯

gwas-database

🎯Skill

from ovachiever/droid-tings

What it does

Query the NHGRI-EBI GWAS Catalog for SNP-trait associations, search variants by rs ID, disease/trait, or gene, and retrieve p-values and summary statistics for genetic epidemiology research.

Overview

The GWAS Catalog Database skill provides programmatic access to the NHGRI-EBI GWAS Catalog, a comprehensive repository of published genome-wide association studies. It enables querying SNP-trait associations via both web interface and REST API, supporting searches by variant rs ID, disease/trait, gene symbol, or chromosomal region. The skill covers the full GWAS Catalog data model including studies, associations, variants, and traits mapped to the EFO ontology.

Key Features

Variant and trait queries: Search associations by rs ID (e.g., rs7903146), EFO trait ID, gene symbol, or genomic coordinates via the GWAS Catalog REST API
Summary statistics access: Download and query full genome-wide summary statistics from the dedicated Summary Statistics API and FTP server
Complete analysis workflows: Five structured workflows covering disease association exploration, variant investigation, gene-centric analysis, systematic reviews, and summary statistics processing
Cross-database integration: Built-in links to Ensembl, dbSNP, gnomAD, Open Targets, and the PGS Catalog for comprehensive genomic interpretation
Python code examples: Ready-to-use code for paginated API queries, data extraction with pandas, and rate-limited batch operations

Who is this for?

Genetic epidemiologists and bioinformaticians working with GWAS data for association studies, fine-mapping, or polygenic risk score development
Biomedical researchers exploring genetic associations for specific diseases or traits across populations
Data scientists building genomic analysis pipelines who need programmatic access to curated SNP-trait association data

📦

Same repository

ovachiever/droid-tings(370 items)

gwas-database

Installation

Vibe Index InstallInstalls to .claude/skills/ - auto-recognized by Claude Code

npx vibeindex add ovachiever/droid-tings --skill gwas-database

skills.sh Install⚠ Installs to .agents/skills/ - may not be auto-recognized by Claude Code

npx skills add ovachiever/droid-tings --skill gwas-database

Manual InstallCopy SKILL.md content and save to the path below

~/.claude/skills/gwas-database/SKILL.md

SKILL.md

31Installs

AddedFeb 4, 2026

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