Agent skill · research science · aiskillstore
gwas-database
Query NHGRI-EBI GWAS Catalog for SNP-trait associations. Search variants by rs ID, disease/trait, gene, retrieve p-values and summary statistics, for genetic epidemiology and polygenic risk scores.
Why this skill is useful
Provides specific REST API commands and data structures for querying genetic associations that the AI wouldn't reliably generate on its own.
What it needs
Requires ebi account access. About 9k tokens when loaded. Last updated 2026-08-07. 405 stars on the source repository.
What this skill does
GWAS Catalog Database Overview The GWAS Catalog is a comprehensive repository of published genome-wide association studies maintained by the National Human Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EBI). The catalog contains curated SNP-trait associations from thousands of GWAS publications, including genetic variants, associated traits and diseases, p-values, effect sizes, and full summary statistics for many studies. When to Use This Skill This skill should be used when queries involve: Genetic variant associations: Finding SNPs associated with diseases or traits SNP lookups: Retrieving information about specific genetic variants (rs IDs) Trait/disease searches: Discovering genetic associations for phenotypes Gene associations: Finding variants in or near specific genes GWAS summary statistics: Accessing complete genome-wide association data Study metadata: Retrieving publication and cohort information Population genetics: Exploring ancestry-specific associations Polygenic risk scores: Identifying variants for risk prediction models Functional genomics: Understanding variant effects and genomic context Systematic reviews: Comprehensive literature synthesis of genetic associations Core Capabilities 1. Understanding GWAS Catalog Data Structure The GWAS Catalog is organized around four core entities: Studies: GWAS publications with metadata (PMID, author, cohort details) Associations: SNP-trait associations with statistical evidence (p ≤ 5×10⁻⁸) Variants: Genetic markers (SNPs) with genomic coordinates and alleles Traits: Phenotypes and diseases (mapped to EFO ontology terms) Key Identifiers: Study accessions: GCST IDs (e.g., GCST001234) Variant IDs: rs numbers (e.g., rs7903146) or variantid format Trait IDs: EFO terms (e.g., EFO0001360 for type 2 diabetes) Gene symbols: HGNC approved names (e.g., TCF7L2) 2. …
How to use it
Reference it in AdaL, Claude Code, Cursor or any coding agent — nothing to install:
@skills aiskillstore/gwas-database