GWAS Study Deep Dive & Meta-Analysis

Compare GWAS studies, perform meta-analyses, and assess replication across cohorts

Overview

The GWAS Study Deep Dive & Meta-Analysis skill enables comprehensive comparison of genome-wide association studies (GWAS) for the same trait, meta-analysis of genetic loci across studies, and systematic assessment of replication and study quality. It integrates data from the NHGRI-EBI GWAS Catalog and Open Targets Genetics to provide a complete picture of the genetic architecture of complex traits.

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