tooluniverse-gwas-study-explorer

Key Capabilities

1. Study Comparison: Compare all GWAS studies for a trait, assessing sample sizes, ancestries, and platforms
2. Meta-Analysis: Aggregate effect sizes across studies and calculate heterogeneity statistics
3. Replication Assessment: Identify replicated vs novel findings across discovery and replication cohorts
4. Quality Evaluation: Assess statistical power, ancestry diversity, and data availability

---

1. Comprehensive Trait Analysis

Scenario: "I want to understand all available GWAS data for type 2 diabetes"

Workflow:

• Search for all T2D studies in GWAS Catalog
• Filter by sample size and ancestry
• Extract top associations from each study
• Identify consistently replicated loci
• Assess ancestry-specific effects

Outcome: Complete landscape of T2D genetics with replicated findings and population-specific signals

2. Locus-Specific Meta-Analysis

Scenario: "Is the TCF7L2 association with T2D consistent across all studies?"

Workflow:

• Retrieve all TCF7L2 (rs7903146) associations for T2D
• Calculate combined effect size and p-value
• Assess heterogeneity (I² statistic)
• Generate forest plot data
• Interpret heterogeneity level

Outcome: Quantitative assessment of effect size consistency with heterogeneity interpretation