Agent skill · research science · davila7
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 GWAS SNP-trait associations that the AI wouldn't reliably generate on its own.
What it needs
About 9k tokens when loaded. Last updated 2026-08-06. 30,138 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 davila7/gwas-database