What is the GWAS Catalog skill for Claude Code?

It is a specialized capability that allows Claude to query the NHGRI-EBI GWAS Catalog for genome-wide association study data, including variants, traits, and p-values.

Does this skill provide access to summary statistics?

Yes, the skill includes specific workflows for accessing the GWAS Summary Statistics API to retrieve complete genome-wide data for supported studies.

Can I search for specific SNPs using this skill?

Yes, you can search for genetic variants using standard rs IDs (e.g., rs7903146) to find all reported trait associations and statistical data.

What data sources does this skill use?

It interacts with the official NHGRI-EBI GWAS Catalog REST API and the GWAS Summary Statistics API, which are standard resources in human genetics.

Is it possible to search by chromosomal region?

Yes, the skill supports querying for variants and associations within specific genomic intervals or chromosomal coordinates using the findByChromBpLocationRange endpoint.

GWAS Database Integration

Name: GWAS Database Integration
Author: Activer007

byActiver007

0•

Data Science & ML

Queries the NHGRI-EBI GWAS Catalog to retrieve genetic variant associations, trait data, and genomic summary statistics.

This skill empowers Claude to interact directly with the NHGRI-EBI GWAS Catalog, a premier repository for genome-wide association study results. It provides comprehensive access to curated SNP-trait associations, allowing users to lookup specific variants (rs IDs), explore phenotypes, and analyze chromosomal regions. By integrating both the standard REST API and the Summary Statistics API, it facilitates deep genomic research, the construction of polygenic risk scores, and functional genomics analysis within a coding environment.

Key Features

010 GitHub stars

02Extract study metadata including PMID, cohort details, and ancestry info

03Retrieve SNP-trait associations by rs ID, gene symbol, or trait name

04Access full GWAS summary statistics for thousands of published studies

05Standardize trait searches using EFO (Experimental Factor Ontology) identifiers

06Query chromosomal regions for genetic variants and associated phenotypes

Use Cases

01Building bioinformatics pipelines that require automated GWAS data retrieval

02Identifying genetic risk factors for specific diseases or physiological traits

03Conducting systematic reviews of genetic literature and association evidence

What are Skills?·How to Install

Install with 🐟 Skill.Fish

npx skillfish add activer007/ordinary-claude-skills gwas-database

For use in Claude.ai and ChatGPT

Download Skill