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
- Downloads pagehttps://github.com/frankvogt/vcf2gwas#about-the-project