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BioinformaticsBioinformatics
Peer-reviewed journal article

VarExp: Estimating variance explained by Genome-Wide GxE summary statistics

Vincent LavilleiD, Amy R. BentleyiD, Florian PrivéiD, Xiaofeng ZhuiD, Jim Gauderman, Thomas W. WinkleriD, Michael A. ProvinceiD, D. C. RaoiD, Hugues AschardiD, on behalf of the CHARGE Gene-Lifestyle Interactions Working Group

Abstract

Many genomic analyses, such as genome-wide association studies (GWAS) or genome-wide screening for Gene-Environment (GxE) interactions have been performed to elucidate the underlying mechanisms of human traits and diseases. When the analyzed outcome is quantitative, the overall contribution of identified genetic variants to the outcome is often expressed as the percentage of phenotypic variance explained. In practice, this is commonly estimated using individual genotype data. However, using individual-level data faces practical and ethical challenges when the GWAS results are derived in large consortia through meta-analysis of results from multiple cohorts. In this work, we present a R package, \"VarExp\", that allows for the estimation of the percentage of phenotypic variance explained by variants of interest using summary statistics only. Our package allows for a range of models to be evaluated, including marginal genetic effects, GxE interaction effects, and main genetic and interaction effects jointly. Its implementation integrates all recent methodological developments on the topic and does not need external data to be uploaded by users.\n\nThe R source code, tutorial and associated example are available at https://gitlab.pasteur.fr/statistical-genetics/VarExp.git.

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02 /Specification & Classification

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