Can I search for specific genes using this skill?

Yes, you can search by HGNC approved gene symbols to find variants in or near specific gene regions and their associated traits.

Does this skill provide access to full summary statistics?

Yes, it provides specific REST API endpoints and FTP paths to access comprehensive genome-wide summary statistics for many listed studies.

What is the GWAS Catalog?

The GWAS Catalog is a curated repository of all published genome-wide association studies, maintained by NHGRI and EBI, containing thousands of SNP-trait associations.

Can I filter results by p-value significance?

Yes, the skill supports querying with p-value thresholds, typically filtering for genome-wide significance (p ≤ 5×10⁻⁸) or custom thresholds.

What identifiers are used for traits and diseases?

The skill uses EFO (Experimental Factor Ontology) IDs, such as EFO_0001360 for type 2 diabetes, to ensure standardized and precise trait searching.

GWAS Database (NHGRI-EBI)

Name: GWAS Database (NHGRI-EBI)
Author: jimmc414

byjimmc414

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324

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Data Science & ML

Queries the NHGRI-EBI GWAS Catalog to retrieve genetic variant associations, study metadata, and polygenic risk score data.

The GWAS Database skill empowers Claude to act as a bioinformatics assistant by providing direct access to the NHGRI-EBI GWAS Catalog, a comprehensive repository of published genome-wide association studies. It enables researchers to programmatically search for SNP-trait associations, retrieve genome-wide summary statistics, and explore the genetic architecture of complex diseases using standardized identifiers. Whether looking up specific rs IDs, investigating gene-centric associations, or synthesizing genetic epidemiology data, this skill streamlines the process of extracting peer-reviewed genomic evidence for autonomous scientific discovery and analysis.

Key Features

01324 GitHub stars

02Identify trait-specific associations using standardized EFO ontology terms

03Search genetic variants by rs ID, genomic coordinates, or gene name

04Access comprehensive GWAS summary statistics via REST API

05Retrieve SNP-trait associations with p-values and effect sizes

06Query study metadata including ancestry information and sample sizes

Use Cases

01Building polygenic risk score models using validated genetic markers

02Investigating pleiotropy by mapping single variants across multiple traits

03Conducting systematic reviews of genetic associations for specific phenotypes

What are Skills?·How to Install

Install with 🐟 Skill.Fish

npx skillfish add jimmc414/kosmos gwas-database

For use in Claude.ai and ChatGPT

Download Skill