Can I search for associations by gene name?

Yes, the skill provides specific patterns for finding variants in or near specific genes using HGNC approved symbols like APOE or TCF7L2.

What is the GWAS Catalog database skill?

It is a specialized capability for Claude to programmatically query the NHGRI-EBI database for published genome-wide association studies, associations, and genetic variant data.

Does this skill provide access to full summary statistics?

Yes, it includes documentation and code examples for interacting with the GWAS Catalog Summary Statistics API and FTP servers for comprehensive data access.

Which identifiers can I use to search the database?

You can search using SNP rs IDs, study accession numbers (GCST IDs), trait identifiers (EFO terms), and chromosomal coordinates.

GWAS Catalog Database

Name: GWAS Catalog Database
Author: Yezez9

byYezez9

0•

데이터 과학 및 ML

Queries the NHGRI-EBI GWAS Catalog for SNP-trait associations, genetic variants, and summary statistics to support genomic research.

This skill enables Claude to interact with the NHGRI-EBI GWAS Catalog, the leading repository of genome-wide association studies. It provides specialized guidance for searching genetic variants by rs ID, disease, or gene, as well as accessing complex summary statistics, study metadata, and ancestry-specific data. By providing structured query patterns for REST APIs and web interfaces, it helps researchers and developers automate the retrieval of genetic epidemiology data, calculate polygenic risk scores, and conduct functional genomics analyses without leaving their coding environment.

주요 기능

01Query SNP-trait associations by rs ID, disease name, or EFO trait

02Perform gene-centric and chromosomal region-based variant discovery

030 GitHub stars

04Retrieve detailed study metadata including PMIDs, cohorts, and author details

05Cross-reference associations with external resources like Ensembl and dbSNP

06Access full genome-wide summary statistics via dedicated REST API endpoints

사용 사례

01Retrieving p-values and effect sizes for the development of polygenic risk scores

02Identifying genetic markers and risk alleles for specific phenotypes or diseases

03Conducting systematic literature reviews and meta-analyses of genetic associations

What are Skills?·How to Install

Install with 🐟 Skill.Fish

npx skillfish add yezez9/research-agent gwas-database

For use in Claude.ai and ChatGPT

주요 기능

01Query SNP-trait associations by rs ID, disease name, or EFO trait

02Perform gene-centric and chromosomal region-based variant discovery

030 GitHub stars

04Retrieve detailed study metadata including PMIDs, cohorts, and author details

05Cross-reference associations with external resources like Ensembl and dbSNP

06Access full genome-wide summary statistics via dedicated REST API endpoints

사용 사례

01Retrieving p-values and effect sizes for the development of polygenic risk scores

02Identifying genetic markers and risk alleles for specific phenotypes or diseases

03Conducting systematic literature reviews and meta-analyses of genetic associations