vcf2gwas

vcf2gwas integrates bcftools, PLINK, and GEMMA to perform genome-wide association studies (GWAS) directly from Variant Call Format (VCF) files to identify genotype–phenotype associations.


Key Features:

  • Integration with bcftools, PLINK, and GEMMA: Unifies bcftools, PLINK, and GEMMA into a single workflow for end-to-end GWAS processing.
  • VCF-based GWAS: Performs GWAS starting from Variant Call Format (VCF) files and handles required genotype and phenotype data preprocessing and formatting.
  • Reproducibility: Provides an integrated workflow that supports reproducible GWAS analyses across datasets.
  • Dimensionality Reduction: Includes methods to reduce the dimensionality of phenotypic data for downstream analyses.
  • Comparative Variant Analysis: Enables comparison of significant variants with specified genes or genomic regions of interest.
  • Post-analysis Summaries and Visualization: Produces summaries and visualizations of GWAS results to support interpretation.

Scientific Applications:

  • Association Mapping: Identifying genetic variants associated with complex traits through GWAS.
  • Gene–Environment Interaction Analysis: Exploring gene–environment interactions using association results.
  • Cross-study Reproducibility: Supporting reproducible analysis workflows for comparisons across studies and datasets.

Methodology:

Leverages bcftools, PLINK, and GEMMA within a unified framework to process VCF genotype data, perform association testing, apply dimensionality reduction to phenotypic data, and generate summary and visualization outputs.

Topics

Details

License:
GPL-3.0
Cost:
Free of charge
Tool Type:
command-line tool
Operating Systems:
Mac, Linux, Windows
Programming Languages:
Python
Added:
10/7/2021
Last Updated:
10/10/2021

Operations

Publications

Vogt F, Shirsekar G, Weigel D. <i>vcf2gwas</i> - Python API for comprehensive GWAS analysis using GEMMA. Unknown Journal. 2021. doi:10.1101/2021.06.01.446586.

Documentation

Downloads