What is the GWAS Catalog used for?

The GWAS Catalog is used to identify genetic variants (SNPs) associated with specific human traits or diseases, providing statistical evidence like p-values and effect sizes.

Can I search for specific genetic variants using this skill?

Yes, you can search using standard rs IDs (e.g., rs7903146) to find all traits associated with that specific genomic location.

Does this skill support programmatic API access?

Yes, it provides implementation patterns for both the main GWAS Catalog REST API and the Summary Statistics API using Python.

How does the skill handle disease classifications?

It utilizes the Experimental Factor Ontology (EFO) to ensure standardized searching of diseases and phenotypes across different studies.

GWAS Catalog Explorer

Name: GWAS Catalog Explorer
Author: lifangda

bylifangda

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Data Science & ML

Queries the NHGRI-EBI GWAS Catalog for genetic variants, SNP-trait associations, and summary statistics to support genetic epidemiology research.

This skill enables Claude to interface with the comprehensive NHGRI-EBI GWAS Catalog, a curated repository of thousands of genome-wide association studies. It facilitates searching for single nucleotide polymorphisms (SNPs) by rs ID, exploring associations by trait or disease using EFO ontology terms, and retrieving complex summary statistics. Whether you are conducting a systematic review, identifying variants for polygenic risk scores, or investigating gene-centric associations, this skill provides the programmatic patterns and domain knowledge required to navigate genetic epidemiology data effectively.

Key Features

01Retrieve comprehensive GWAS summary statistics and study metadata

02Access REST APIs for programmatic genomic data retrieval

03Search genetic associations by SNP rs ID or trait/disease

0416 GitHub stars

05Filter genetic variants by chromosomal region and p-value significance

06Cross-reference data with Ensembl, dbSNP, and gnomAD databases

Use Cases

01Identifying genetic risk factors for specific diseases like Type 2 Diabetes or Parkinson's

02Conducting systematic literature synthesis of genetic associations for research papers

03Building datasets for polygenic risk score (PRS) modeling and prediction

What are Skills?·How to Install

Install with 🐟 Skill.Fish

npx skillfish add lifangda/claude-plugins gwas-database

For use in Claude.ai and ChatGPT

Download Skill