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db-gwas

Official

Query GWAS Catalog for SNP-trait associations.

Education & Research#bioinformatics#genetics#gwas#snp#trait association#genomic data
Authorbiomaps-infra
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill provides programmatic access to the NHGRI-EBI GWAS Catalog, enabling users to efficiently query and retrieve information on SNP-trait associations, study metadata, and summary statistics, thereby accelerating genetic epidemiology research.

Core Features & Use Cases

  • SNP-Trait Association Lookup: Find genetic variants (SNPs) associated with specific diseases or traits, and retrieve their p-values and effect sizes.
  • Variant Information Retrieval: Get detailed information about a specific SNP, including its genomic location and all associated traits.
  • Trait-Based Searching: Discover all genetic variants linked to a particular disease or phenotype.
  • Summary Statistics Access: Retrieve detailed summary statistics for genome-wide association studies.
  • Use Case: A researcher wants to identify all SNPs associated with Type 2 Diabetes with a p-value less than 1e-9 and retrieve their effect sizes and risk alleles.

Quick Start

Use the db-gwas skill to find all SNP associations for the trait 'EFO_0001360' with a p-value less than 1e-8.

Dependency Matrix

Required Modules

None required

Components

references

💻 Claude Code Installation

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Please help me install this Skill:
Name: db-gwas
Download link: https://github.com/biomaps-infra/blender-opencode/archive/main.zip#db-gwas

Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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