gwas-database

Query the NHGRI-EBI GWAS Catalog for SNP-trait associations and summary statistics.

Updated Mar 10, 2026
One-click install
npx skills add https://github.com/Yezez9/Research-Agent --skill gwas-database-yezez9
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/Yezez9/Research-Agent/tree/main/scientific-skills/gwas-database
Command: npx skills add https://github.com/Yezez9/Research-Agent --skill gwas-database-yezez9

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill provides access to the NHGRI-EBI GWAS Catalog, enabling users to query genetic variant-trait associations, retrieve summary statistics, and explore genetic epidemiology data.

Core Features & Use Cases

  • Variant Association Lookup: Find SNPs associated with specific diseases or traits.
  • Trait-Based Search: Discover genetic variants linked to a particular phenotype.
  • Summary Statistics Access: Retrieve detailed statistical data for genome-wide association studies.
  • Use Case: A researcher investigating the genetic basis of type 2 diabetes can use this Skill to find all known SNPs associated with the disease, their p-values, and effect sizes.

Quick Start

Use the gwas-database skill to find all associations for 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 find SNPs associated with a specific disease or trait?

You can query genetic variant-trait associations by searching the GWAS Catalog for a specific trait like 'type 2 diabetes' to retrieve associated SNPs, p-values, and effect sizes using variant ID, gene, or genomic region.

What is the GWAS Catalog used for in genetic epidemiology research?

The GWAS Catalog provides programmatic access to curated genome-wide association study data, facilitating genetic epidemiology research, polygenic risk score development, and functional genomics by retrieving SNP-trait associations and summary statistics.

Can I retrieve summary statistics for genome-wide association studies by genomic region?

Yes, you can retrieve detailed summary statistics for genome-wide association studies by searching for associations within a specific genomic region, variant ID, or trait directly from the NHGRI-EBI GWAS Catalog.

How do I get study metadata for genetic variants linked to a phenotype?

To get study metadata for genetic variants linked to a phenotype, perform a trait-based search in the GWAS Catalog to retrieve curated data including study details, statistical summaries, and SNP associations for that phenotype.

Does this GWAS query tool support searches by gene name and variant ID?

Yes, this GWAS query tool supports retrieving SNP-trait associations and study metadata by searching with a variant ID, trait name, gene name, or genomic region from the NHGRI-EBI GWAS Catalog.