MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics.
other · Level V
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- Record sourced from PubMed, PMID 34601555.
- Also identified by DOI 10.1093/bioinformatics/btab665 and PMC identifier 8652100.
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Abstract
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. 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. MungeSumstats is available on Bioconductor (v 3.13) and can also be found on Github at: https://neurogenomics.github.io/MungeSumstats. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Genome-Wide Association Study
- Software