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.
8.3
Rating
0
Installs
Data & Analytics
Category
Excellent bioinformatics skill for GWAS Catalog querying. The description clearly conveys the skill's purpose (SNP-trait associations, genetic epidemiology). Task knowledge is comprehensive with detailed API examples, multiple query workflows, complete Python code, and proper data interpretation guidance. Structure is very clear with logical sections, though the main SKILL.md is quite lengthy (could benefit from moving some workflows to separate files). Novelty is strong: a CLI agent would struggle with the domain-specific knowledge of GWAS data structures, EFO ontology mapping, proper statistical thresholds (5×10⁻⁸), and multi-step workflows combining web/API/FTP access. This skill meaningfully reduces the token cost and complexity of genetic epidemiology queries. The reference to api_reference.md is appropriately handled per scoring rules.
Loading SKILL.md…

Skill Author