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

Published in Bioinformatics, 2021

Recommended citation: Murphy, A. E., Schilder, B. M. & Skene, N. G. Bioinformatics 37, 4593–4596 (2021) https://academic.oup.com/bioinformatics/article/37/23/4593/6380562

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.

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Recommended citation: Murphy, A. E., Schilder, B. M. & Skene, N. G. Bioinformatics 37, 4593–4596 (2021).