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Updated: Dec 20, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
bGWAS: an R package to perform Bayesian genome wide association studies
Ninon Mounier1,2, Zoltán Kutalik1,2
1Department of Training, Research and Innovation, University Center for Primary Care and Public Health, Lausanne 1010, Switzerland.
Summary:
Increasing sample size is not the only strategy to improve discovery in Genome Wide Association Studies (GWASs) and we propose here an approach that leverages published studies of related traits to improve inference. Our Bayesian GWAS method derives informative prior effects by leveraging GWASs of related risk factors and their causal effect estimates on the focal trait using multivariable Mendelian randomization. These prior effects are combined with the observed effects to yield Bayes Factors, posterior and direct effects. The approach not only increases power, but also has the potential to dissect direct and indirect biological mechanisms.
Availability And Implementation:
bGWAS package is freely available under a GPL-2 License, and can be accessed, alongside with user guides and tutorials, from https://github.com/n-mounier/bGWAS.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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