gwas-database

原文涵盖的主题

• GWAS Catalog Database
• Overview
• When to Use This Skill
• Core Capabilities
• 1. Understanding GWAS Catalog Data Structure
• 2. Web Interface Searches
• 3. REST API Access
• 4. Query Examples and Patterns

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. 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 Systematic reviews: Comprehensive literature synthesis of genetic associations The GWAS Catalog i

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