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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数据科学与机器学习

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

关于

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.

主要功能

Retrieve comprehensive GWAS summary statistics and study metadata
Access REST APIs for programmatic genomic data retrieval
Search genetic associations by SNP rs ID or trait/disease
16 GitHub stars
Filter genetic variants by chromosomal region and p-value significance
Cross-reference data with Ensembl, dbSNP, and gnomAD databases

使用场景

Identifying genetic risk factors for specific diseases like Type 2 Diabetes or Parkinson's
Conducting systematic literature synthesis of genetic associations for research papers
Building datasets for polygenic risk score (PRS) modeling and prediction

关于

主要功能

Retrieve comprehensive GWAS summary statistics and study metadata
Access REST APIs for programmatic genomic data retrieval
Search genetic associations by SNP rs ID or trait/disease
16 GitHub stars
Filter genetic variants by chromosomal region and p-value significance
Cross-reference data with Ensembl, dbSNP, and gnomAD databases

使用场景

Identifying genetic risk factors for specific diseases like Type 2 Diabetes or Parkinson's
Conducting systematic literature synthesis of genetic associations for research papers
Building datasets for polygenic risk score (PRS) modeling and prediction