MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics
| Autor: | Alan E Murphy, Brian M Schilder, Nathan G. Skene |
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| Rok vydání: | 2021 |
| Předmět: |
Statistics and Probability
Technology Biochemistry & Molecular Biology AcademicSubjects/SCI01060 Bioinformatics Computer science Statistics & Probability media_common.quotation_subject Databases and Ontologies Control (management) Genome-wide association study Biochemistry Biochemical Research Methods Bioconductor Quality (business) Molecular Biology Data objects 01 Mathematical Sciences media_common Variant Call Format Science & Technology Information retrieval 06 Biological Sciences File format Applications Notes Summary statistics Computer Science Applications Computational Mathematics Biotechnology & Applied Microbiology Computational Theory and Mathematics Physical Sciences Computer Science Computer Science Interdisciplinary Applications Mathematical & Computational Biology 08 Information and Computing Sciences Life Sciences & Biomedicine Mathematics |
| Zdroj: | Bioinformatics |
| ISSN: | 1460-2059 1367-4803 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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