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.
8.7
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Exceptional skill for querying the NHGRI-EBI GWAS Catalog. The description is comprehensive and actionable, enabling a CLI agent to perform complex genetic association queries without prior domain knowledge. Task knowledge is outstanding with detailed API examples, complete Python workflows, and five distinct query patterns covering variant lookups, disease searches, gene analysis, systematic reviews, and summary statistics access. Structure is excellent with clear sections, though SKILL.md is quite long (could benefit from moving some workflows to separate files). Novelty is strong: GWAS queries require specialized biological knowledge, correct API usage, pagination handling, and understanding of genomic identifiers (rs IDs, EFO terms, GCST accessions) that would be challenging for a general CLI agent. The skill significantly reduces token cost for genetic epidemiology tasks and provides reusable query templates. Minor improvement: the extensive content could be modularized further for easier navigation.
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