gwas-database

Query the NHGRI-EBI GWAS Catalog for genetic associations by variant, trait, or gene.

Updated Dec 17, 2025
One-click install
npx skills add https://github.com/robotlearning123/claude-scientific-skills --skill gwas-database-robotlearning123
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/robotlearning123/claude-scientific-skills/tree/main/scientific-skills/gwas-database
Command: npx skills add https://github.com/robotlearning123/claude-scientific-skills --skill gwas-database-robotlearning123

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes scripts (resource) and references (resource) components.

What problem does it solve?

This Skill streamlines access to and analysis of the NHGRI-EBI GWAS Catalog, enabling users to efficiently search, retrieve, and interpret genetic association data.

Core Features & Use Cases

  • Efficient Data Retrieval: Query the GWAS Catalog using rs IDs, gene symbols, or trait names to quickly access SNP-trait associations.
  • Data Analysis: Retrieve detailed association information including p-values, effect sizes, and study metadata.
  • Use Case: Identify SNPs associated with a specific disease trait or explore genetic associations within a gene region.

Quick Start

Query the GWAS Catalog for associations with the trait 'type 2 diabetes'.

Frequently Asked Questions about gwas-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I retrieve SNP-trait associations from the GWAS Catalog?

You can query the NHGRI-EBI GWAS Catalog by rs IDs, gene symbols, or trait names to retrieve SNP-trait associations, p-values, effect sizes, and comprehensive study metadata directly.

What genetic association data can I get from the NHGRI-EBI GWAS Catalog?

The NHGRI-EBI GWAS Catalog provides genetic association data including p-values, effect sizes, SNP-trait associations, and comprehensive study metadata for biomedical research queries.

Can I search for genetic associations within a specific gene region?

Yes, you can search for genetic associations within a gene region by querying the GWAS Catalog using gene symbols to retrieve related SNP-trait associations and study metadata.

Do I need internet access to query the GWAS Catalog for summary statistics?

Yes, retrieving GWAS Catalog summary statistics requires internet access because the Skill relies on external API endpoints to fetch genetic association data and study metadata.

What is the best way to find SNPs associated with a specific disease trait?

The best way to find SNPs associated with a disease trait is to query the GWAS Catalog by trait name to retrieve matching genetic association data and study metadata.