gwas-database
Access the NHGRI-EBI GWAS Catalog to find genetic variant associations with diseases and traits. Search by rs ID, phenotype, gene, or genomic region to retrieve p-values, effect sizes, and study metadata for epidemiological research and risk score development.
GWAS Database queries SNP-trait associations from the NHGRI-EBI catalog to retrieve p-values and summary statistics for genetic epidemiology research.
AI-generated summary based on this skill's SKILL.md
Install
synthetic-sciences/openscience/gwas-database · repository language: TypeScript
git clone https://github.com/synthetic-sciences/openscience
cp -r openscience/backend/cli/skills/databases/gwas-database ~/.claude/skills/gwas-databaseFrequently asked questions
AI-generated answers based on this skill's SKILL.md and metadata
How do I find SNP associations with type 2 diabetes in gwas-database?
gwas-database provides direct access to the NHGRI-EBI GWAS Catalog, where you can search for SNP-trait associations by entering your disease or trait of interest. Query for type 2 diabetes to retrieve all associated genetic variants with their p-values, effect sizes, and supporting study metadata for epidemiological analysis.
What can I retrieve using an rs ID variant lookup in gwas-database?
gwas-database lets you search by rs ID to identify all trait associations for that specific variant. Results include p-values, odds ratios or beta coefficients, associated phenotypes, sample sizes, and links to original GWAS publications—essential data for understanding a variant's role across multiple diseases.
Can gwas-database help me construct a polygenic risk score?
Yes. gwas-database identifies genetic variants suitable for polygenic risk score construction by retrieving genome-wide significant hits with effect sizes and p-values. Filter results by ancestry, study population, and significance thresholds to select variants that meet your score's statistical criteria.
How do I search the GWAS catalog by gene name using gwas-database?
gwas-database supports gene-name queries to find all variants within or near your target gene. Results map SNPs to genomic regions and associated traits, allowing you to explore how genetic variation at that locus influences multiple phenotypes across published GWAS studies.
Does gwas-database include ancestry-specific genetic associations?
gwas-database provides access to ancestry-specific and population-level genetic associations from the GWAS Catalog. You can filter results by ancestry group to examine how variant-trait associations vary across populations, supporting more inclusive and representative genetic epidemiology research.
What metadata and summary statistics does gwas-database provide?
gwas-database returns comprehensive GWAS metadata including p-values, effect sizes, sample sizes, study design, publication details, and chromosomal coordinates. Access to these summary statistics supports validation studies, meta-analyses, and functional annotation of genome-wide significant variants.
SKILL.md
rendered from the published skill — quoted content, verbatim
GWAS Catalog Database
Overview
The GWAS Catalog is a comprehensive repository of published genome-wide association studies maintained by the National Human Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EBI). The catalog contains curated SNP-trait associations from thousands of GWAS publications, including genetic variants, associated traits and diseases, p-values, effect sizes, and full summary statistics for many studies.
When to Use This Skill
This skill should be used when queries involve:
- Genetic variant associations: Finding SNPs associated with diseases or traits
- SNP lookups: Retrieving information about specific genetic variants (rs IDs)
- Trait/disease searches: Discovering genetic associations for phenotypes
- Gene associations: Finding variants in or near specific genes
- **GWAS summary
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backend/cli/skills/databases/gwas-database/SKILL.md
backend/cli/skills/databases/gwas-database/references/api_reference.md