Can this skill help access raw summary statistics?

Yes, it provides documentation and code implementation patterns for accessing the GWAS Catalog Summary Statistics REST API and FTP server for full study data.

Can I filter results by statistical significance?

Yes, the skill includes patterns to filter associations by p-value, such as focusing on the standard genome-wide significance threshold of p ≤ 5×10⁻⁸.

Does it support gene-centric association queries?

Absolutely. You can search for variants located within or near specific gene symbols to understand their phenotypic associations and genomic context.

How do I search for a specific SNP using this skill?

You can use the variant search mode by providing the rs ID (e.g., rs7903146) to Claude, which will then use the GWAS Catalog API patterns to retrieve all associated traits and statistical evidence.

Is an API key required for GWAS Catalog access?

No, the NHGRI-EBI GWAS Catalog REST API is publicly accessible and does not require an API key for standard research queries.

GWAS Catalog Database Search

Name: GWAS Catalog Database Search
Author: K-Dense-AI

byK-Dense-AI

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3,719

数据科学与机器学习

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

关于

This skill enables Claude to interact effectively with the GWAS Catalog, the premier repository for published genome-wide association studies maintained by NHGRI and EBI. It provides comprehensive guidance for searching variants by rs ID, exploring disease-specific associations, and querying genes or chromosomal regions through both the web interface and REST APIs. By facilitating access to p-values, risk alleles, and summary statistics, this skill is essential for researchers performing systematic reviews, functional genomic analysis, and population genetics studies.

主要功能

Integrate data with external genomic resources like Ensembl and dbSNP
Query specific chromosomal intervals for regional variant analysis
Retrieve statistical evidence including p-values and effect sizes
Access REST API patterns for study metadata and summary statistics
3,719 GitHub stars
Search genetic associations by variant rs ID, disease trait, or gene symbol

使用场景

Investigating pleiotropic effects of specific genetic markers across multiple traits and diseases
Conducting systematic literature reviews of genome-wide association studies for specific phenotypes
Developing polygenic risk models by identifying high-confidence disease-associated variants

关于

主要功能

Integrate data with external genomic resources like Ensembl and dbSNP
Query specific chromosomal intervals for regional variant analysis
Retrieve statistical evidence including p-values and effect sizes
Access REST API patterns for study metadata and summary statistics
3,719 GitHub stars
Search genetic associations by variant rs ID, disease trait, or gene symbol

使用场景

Investigating pleiotropic effects of specific genetic markers across multiple traits and diseases
Conducting systematic literature reviews of genome-wide association studies for specific phenotypes
Developing polygenic risk models by identifying high-confidence disease-associated variants