How are traits and diseases identified in this skill?

The skill utilizes the Experimental Factor Ontology (EFO) to ensure precise and standardized identification of phenotypes, diseases, and traits.

Can I use this skill for gene-centric research?

Absolutely. You can search for all associated variants within or near specific gene regions to understand the genetic architecture of a particular locus.

What is the GWAS Catalog Database skill for Claude?

It is a specialized capability that allows Claude to search the NHGRI-EBI GWAS Catalog for genetic variants, traits, and study results using standardized API patterns.

Can I search for specific SNPs using rs IDs?

Yes, the skill provides patterns to retrieve all trait associations, chromosomal positions, and p-values for specific genetic variants using their rs ID identifiers.

Does this skill provide access to GWAS summary statistics?

Yes, it includes documentation and code examples for accessing full genome-wide summary statistics via the specialized GWAS Summary Statistics API.

GWAS Catalog Explorer

Name: GWAS Catalog Explorer
Author: K-Dense-AI

byK-Dense-AI

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2,188

Data Science & ML

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

About

The GWAS Catalog Explorer skill enables Claude to interact directly with the NHGRI-EBI GWAS Catalog, a premier repository of published genome-wide association studies. It provides specialized logic for searching genetic variants by rs ID, exploring associations for specific phenotypes using EFO ontology terms, and retrieving granular summary statistics for genetic epidemiology. This skill is indispensable for bioinformaticians and researchers performing systematic reviews, building polygenic risk score models, or investigating the functional genomic context of specific variants through standardized REST API patterns.

Key Features

Trait and disease-centric association searches using EFO ontology
2,188 GitHub stars
Gene-based variant discovery and functional interpretation
Programmatic access to GWAS summary statistics and study metadata
Cross-referencing with external resources like Ensembl, dbSNP, and Open Targets
Comprehensive variant lookups by rs ID and genomic coordinates

Use Cases

Building automated pipelines for polygenic risk score (PRS) variant selection
Conducting systematic literature reviews for specific phenotype-genotype associations
Identifying functional consequences of SNPs within specific gene regulatory regions

About

Key Features

Trait and disease-centric association searches using EFO ontology
2,188 GitHub stars
Gene-based variant discovery and functional interpretation
Programmatic access to GWAS summary statistics and study metadata
Cross-referencing with external resources like Ensembl, dbSNP, and Open Targets
Comprehensive variant lookups by rs ID and genomic coordinates

Use Cases

Building automated pipelines for polygenic risk score (PRS) variant selection
Conducting systematic literature reviews for specific phenotype-genotype associations
Identifying functional consequences of SNPs within specific gene regulatory regions