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

데이터 과학 및 ML

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

소개

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.

주요 기능

0 GitHub stars
Extract study metadata including PMID, cohort details, and ancestry info
Retrieve SNP-trait associations by rs ID, gene symbol, or trait name
Access full GWAS summary statistics for thousands of published studies
Standardize trait searches using EFO (Experimental Factor Ontology) identifiers
Query chromosomal regions for genetic variants and associated phenotypes

사용 사례

Building bioinformatics pipelines that require automated GWAS data retrieval
Identifying genetic risk factors for specific diseases or physiological traits
Conducting systematic reviews of genetic literature and association evidence

소개

주요 기능

0 GitHub stars
Extract study metadata including PMID, cohort details, and ancestry info
Retrieve SNP-trait associations by rs ID, gene symbol, or trait name
Access full GWAS summary statistics for thousands of published studies
Standardize trait searches using EFO (Experimental Factor Ontology) identifiers
Query chromosomal regions for genetic variants and associated phenotypes

사용 사례

Building bioinformatics pipelines that require automated GWAS data retrieval
Identifying genetic risk factors for specific diseases or physiological traits
Conducting systematic reviews of genetic literature and association evidence