How do I search for a specific genetic variant using this skill?

You can search by rs ID (e.g., rs7903146) to retrieve all reported trait associations, p-values, and genomic coordinates for that specific SNP.

Is this useful for Polygenic Risk Score (PRS) development?

Absolutely. It helps identify relevant variants, effect sizes (OR/Beta), and risk alleles required to build predictive genetic risk models.

What identifiers does the gwas-database skill support?

It supports GCST study accessions, rs variant IDs, EFO trait identifiers, HGNC gene symbols, and chromosomal coordinates.

What is the GWAS Catalog?

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

Can I access full summary statistics?

Yes, this skill provides guidance on using the GWAS Summary Statistics API and FTP access to retrieve complete genome-wide data beyond just the significant hits.

GWAS Catalog Explorer

Name: GWAS Catalog Explorer
Author: BbgnsurfTech

byBbgnsurfTech

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数据科学与机器学习

Queries the NHGRI-EBI GWAS Catalog for genetic variant associations, study metadata, and summary statistics.

关于

The GWAS Catalog Explorer skill enables Claude to interact effectively with the NHGRI-EBI GWAS Catalog, the premier repository for genome-wide association studies. It provides specialized guidance for querying SNP-trait associations, performing gene-centric lookups, and accessing detailed summary statistics through both web interfaces and REST APIs. This skill is indispensable for researchers in genetic epidemiology, functional genomics, and polygenic risk score development who need to integrate high-quality, curated genetic evidence into their bioinformatics workflows.

主要功能

3 GitHub stars
Retrieve SNP-trait associations using rs IDs or EFO ontology terms
Perform gene-based and chromosomal region searches for genetic variants
Query and filter GWAS summary statistics by p-value and population
Access REST API implementation patterns for automated data retrieval
Cross-reference results with Ensembl, dbSNP, and Open Targets databases

使用场景

Identifying genetic risk factors and associated p-values for specific diseases or phenotypes
Conducting systematic reviews of genetic evidence for drug target validation and discovery
Extracting significant variant sets for developing polygenic risk scores (PRS)

关于

主要功能

3 GitHub stars
Retrieve SNP-trait associations using rs IDs or EFO ontology terms
Perform gene-based and chromosomal region searches for genetic variants
Query and filter GWAS summary statistics by p-value and population
Access REST API implementation patterns for automated data retrieval
Cross-reference results with Ensembl, dbSNP, and Open Targets databases

使用场景

Identifying genetic risk factors and associated p-values for specific diseases or phenotypes
Conducting systematic reviews of genetic evidence for drug target validation and discovery
Extracting significant variant sets for developing polygenic risk scores (PRS)