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MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics

Alan E Murphy, Brian M. Schilder, Nathan Skene

2021Bioinformatics137 citationsDOIOpen Access PDF

Abstract

MOTIVATION: Genome-wide association studies (GWAS) summary statistics have popularized and accelerated genetic research. However, a lack of standardization of the file formats used has proven problematic when running secondary analysis tools or performing meta-analysis studies. RESULTS: To address this issue, we have developed MungeSumstats, a Bioconductor R package for the standardization and quality control of GWAS summary statistics. MungeSumstats can handle the most common summary statistic formats, including variant call format (VCF) producing a reformatted, standardized, tabular summary statistic file, VCF or R native data object. AVAILABILITY AND IMPLEMENTATION: MungeSumstats is available on Bioconductor (v 3.13) and can also be found on Github at: https://neurogenomics.github.io/MungeSumstats. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Topics & Concepts

BioconductorStandardizationComputer scienceStatisticSummary statisticsGenome-wide association studyFile formatComputational statisticsData miningR packageQuality (philosophy)Data fileInformation retrievalStatisticsDatabaseProgramming languageOperating systemBiologyMathematicsMachine learningGenePhilosophySingle-nucleotide polymorphismEpistemologyBiochemistryGenotypeGenetic Associations and EpidemiologyFunctional Brain Connectivity StudiesGene expression and cancer classification