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Updated: Oct 17, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
vcf2gwas: Python API for comprehensive GWAS analysis using GEMMA
Frank Vogt1, Gautam Shirsekar1, Detlef Weigel1
1Department of Molecular Biology, Max Planck Institute for Developmental Biology, Tuebingen 72076, Germany.
Motivation:
Genome-wide association study (GWAS) requires a researcher to perform a multitude of different actions during analysis. From editing and formatting genotype and phenotype information to running the analysis software to summarizing and visualizing the results. A typical GWAS workflow poses a significant challenge of utilizing the command-line, manual text-editing and requiring knowledge of one or more programming/scripting languages, especially for newcomers.
Results:
vcf2gwas is a package that provides a convenient pipeline to perform all of the steps of a traditional GWAS workflow by reducing it to a single command-line input of a Variant Call Format file and a phenotype data file. In addition, all the required software is installed with the package. vcf2gwas also implements several useful features enhancing the reproducibility of GWAS analysis.
Availability And Implementation:
The source code of vcf2gwas is available under the GNU General Public License. The package can be easily installed using conda. Installation instructions and a manual including tutorials can be accessed on the package website at https://github.com/frankvogt/vcf2gwas.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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