gwas-database

Query the NHGRI-EBI GWAS Catalog for SNP-trait associations via REST APIs.

8|Updated Nov 19, 2025

Search Tags:#bioinformatics #genetics #gwas #snp #trait association #genomic data

Ready to run

npx skills add https://github.com/sanand0/scientific-research --skill gwas-database-sanand0

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/sanand0/scientific-research/tree/main/.claude/skills/gwas-database
Command: npx skills add https://github.com/sanand0/scientific-research --skill gwas-database-sanand0

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill provides direct access to the NHGRI-EBI GWAS Catalog, enabling users to query genetic variant associations with diseases and traits, thereby accelerating genetic epidemiology research and the development of polygenic risk scores.

Core Features & Use Cases

Variant Association Lookup: Find SNPs associated with specific diseases or traits.
Trait-Based Search: Discover genetic variants linked to phenotypes of interest.
Gene-Centric Queries: Identify variants in or near specific genes.
Summary Statistics Access: Retrieve detailed statistical data for associations.
Use Case: A researcher investigating the genetic basis of Alzheimer's disease can use this Skill to find all known SNPs associated with the disease, retrieve their p-values, and identify relevant genes for further study.

Quick Start

Query the GWAS Catalog for all associations related to '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?▼

To find SNPs associated with a disease or trait, query the GWAS Catalog for variant association lookups. This allows you to retrieve specific genetic variants linked to phenotypes of interest, along with their p-values and relevant genes.

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

The GWAS Catalog is used in genetic epidemiology to provide programmatic access to curated genome-wide association study data. It enables querying SNP-trait associations, facilitating polygenic risk score development and functional genomics research.

How do I retrieve summary statistics for genetic variant associations?▼

You retrieve summary statistics for genetic variant associations by querying the GWAS Catalog via REST APIs. This provides direct access to detailed statistical data, including p-values, for identified SNP-trait associations.

Can I search for genetic variants linked to a specific gene?▼

Yes, you can search for genetic variants linked to a specific gene using gene-centric queries in the GWAS Catalog. This identifies variants in or near the specified gene, supporting further functional genomics study.

Does querying the GWAS Catalog require any additional dependencies?▼

Querying the GWAS Catalog does not require additional dependencies, as the Skill operates independently. It directly accesses the NHGRI-EBI GWAS Catalog via REST APIs to retrieve curated genome-wide association study data.

What are the limitations of using GWAS Catalog data for polygenic risk score development?▼

GWAS Catalog data for polygenic risk score development is limited to curated genome-wide association study summaries. It provides variant lookups and summary statistics but does not include raw individual-level genotype data for analysis.