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GWAS Downstream Analysis Toolkit 🧬

A reproducible pipeline for post-GWAS analysis, transforming raw summary statistics into biological insights.

⭐ Features

  • LD Clumping: Identifies independent lead SNPs using PLINK.
  • Visualization: Generates Manhattan and Q-Q plots using the qqman R package.
  • Inflation Testing: Calculates genomic inflation ($\lambda$) to check for population stratification.
  • Locus Zooming: (Optional) Scripts for localized Manhattan plots around lead variants.

🛠️ Requirements

  • PLINK v1.9
  • R (v4.0+)
  • R Libraries: qqman, data.table, ggplot2

🚀 Execution Workflow

  1. Prepare Data: Download summary statistics from the GWAS Catalog.
  2. Run Clumping:
    bash scripts/01_qc_clumping.sh
    
    

The pipeline outputs:

gwas_clumped.clumped: A table of independent significant loci.

manhattan_plot.png: Global visualization of associations.

qq_plot.png: Quality control plot for p-value distribution.

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GWAS downstream analysis toolkit

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