Can I search by rs ID using this skill?

Yes, you can look up specific genetic variants by their rs ID to find all reported associations, p-values, and related traits.

Is this suitable for polygenic risk score (PRS) research?

Absolutely. It allows you to retrieve the effect sizes, risk alleles, and p-values necessary for identifying variants for risk prediction models.

How are traits identified in the database?

Traits are standardized using EFO (Experimental Factor Ontology) IDs, though the skill also supports free-text searches for diseases and phenotypes.

What is the GWAS Catalog?

The GWAS Catalog is a comprehensive, curated repository of all published genome-wide association studies, providing data on SNP-trait associations.

Does this skill provide access to summary statistics?

Yes, it includes patterns for accessing the GWAS Catalog Summary Statistics API, which provides data for all tested variants in a study.

GWAS Catalog Database

Name: GWAS Catalog Database
Author: x-cmd

byx-cmd

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データサイエンスとML

Queries the NHGRI-EBI GWAS Catalog to retrieve genetic variants, SNP-trait associations, and comprehensive genomic summary statistics.

概要

The GWAS Catalog Database skill empowers Claude to interact with the premier repository of human genome-wide association studies maintained by NHGRI and EBI. It provides specialized logic for navigating complex genomic data structures, performing rs ID lookups, and identifying genetic associations for specific diseases or traits. This skill is essential for researchers and bioinformaticians who need to programmatically access p-values, effect sizes, and study metadata, or integrate genetic evidence into polygenic risk score models and functional genomics workflows.

主な機能

REST API and Summary Statistics integration
SNP and rs ID association lookups
8 GitHub stars
Gene-centric variant mapping
Trait and disease phenotype searches
Chromosomal region and coordinate querying

ユースケース

Conducting systematic reviews of genetic association literature
Developing bioinformatics pipelines for polygenic risk scores
Identifying genetic risk factors for complex diseases

概要

主な機能

REST API and Summary Statistics integration
SNP and rs ID association lookups
8 GitHub stars
Gene-centric variant mapping
Trait and disease phenotype searches
Chromosomal region and coordinate querying

ユースケース

Conducting systematic reviews of genetic association literature
Developing bioinformatics pipelines for polygenic risk scores
Identifying genetic risk factors for complex diseases