Does this skill provide access to full summary statistics?

Yes, it includes specific capabilities for querying the GWAS Summary Statistics API, allowing you to retrieve p-values and effect sizes for all tested variants in a study.

Can I search for associations by gene symbol?

Yes, the skill provides patterns for finding genetic variants and their associated traits by searching for specific gene symbols like APOE or TCF7L2.

What identifiers should I use for searches?

The skill supports rs IDs for variants, GCST IDs for study accessions, EFO terms for traits, and HGNC approved symbols for genes.

What data sources does the gwas-database skill use?

This skill primarily interacts with the NHGRI-EBI GWAS Catalog, a curated repository of published genome-wide association studies maintained by NHGRI and EBI.

GWAS Database Explorer

Name: GWAS Database Explorer
Author: Sologa

bySologa

Data Science & ML

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

About

The gwas-database skill provides Claude with specialized capabilities to interact with the NHGRI-EBI GWAS Catalog, the world's most comprehensive repository of genome-wide association studies. It enables researchers and developers to programmatically fetch SNP-trait associations, lookup variants by rs ID, search for associations within specific chromosomal regions, and access full summary statistics. This skill is essential for bioinformatics workflows involving genetic epidemiology, polygenic risk score development, and functional genomic analysis, providing standardized patterns for API integration and data interpretation.

Key Features

Map phenotypes to standardized Experimental Factor Ontology (EFO) terms
Query SNP-trait associations by rs ID, disease, or gene symbol
Perform chromosomal region searches for specific genomic intervals
Access comprehensive GWAS summary statistics via REST API endpoints
Retrieve detailed study metadata, including publication and cohort info
0 GitHub stars

Use Cases

Identifying risk-associated SNPs for specific diseases or traits during genetic research
Conducting systematic reviews of genetic literature and association evidence
Automating data retrieval for polygenic risk score (PRS) calculation and modeling

About

Key Features

Map phenotypes to standardized Experimental Factor Ontology (EFO) terms
Query SNP-trait associations by rs ID, disease, or gene symbol
Perform chromosomal region searches for specific genomic intervals
Access comprehensive GWAS summary statistics via REST API endpoints
Retrieve detailed study metadata, including publication and cohort info
0 GitHub stars

Use Cases

Identifying risk-associated SNPs for specific diseases or traits during genetic research
Conducting systematic reviews of genetic literature and association evidence
Automating data retrieval for polygenic risk score (PRS) calculation and modeling