gwas-database
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 statistics: Accessing complete genome-wide association data
- Study metadata: Retrieving publication and cohort information
- Population genetics: Exploring ancestry-specific associations
- Polygenic risk scores: Identifying variants for risk prediction models
- Functional genomics: Understanding variant effects and genomic context
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