MungeSumstats
MungeSumstats standardizes and performs quality control on GWAS summary statistics to enable consistent downstream analyses such as meta-analysis and integrative genetic studies.
Key Features:
- Standardization: Converts diverse GWAS summary statistic formats, including variant call format (VCF), into a uniform tabular format.
- Quality Control: Applies quality-control checks to detect and correct common summary-statistics issues and preserve data reliability for downstream analyses.
- Output Formats: Supports multiple input formats and exports standardized data as tabular files and R native data objects.
Scientific Applications:
- Reproducibility: Harmonizes summary statistics across studies to improve reproducibility of genetic analyses.
- Meta-analysis: Produces consistently formatted and quality-controlled summary statistics to facilitate meta-analyses.
- Variant integration: Enables integration of genetic variant association results across cohorts for studies of complex traits and diseases.
- Large-scale integrative studies: Supports aggregation of summary statistics from multiple sources for downstream genetic and integrative analyses.
Methodology:
Parses and reformats GWAS summary statistics into a standardized tabular format and applies algorithmic quality-control steps to maintain data integrity and compatibility with downstream analytical tools.
Topics
Details
- License:
- Artistic-2.0
- Cost:
- Free of charge
- Tool Type:
- library
- Operating Systems:
- Mac, Linux, Windows
- Programming Languages:
- R
- Added:
- 11/5/2021
- Last Updated:
- 11/5/2021
Operations
Publications
Murphy AE, Skene NG. MungeSumstats: A Bioconductor package for the standardisation and quality control of many GWAS summary statistics. Unknown Journal. 2021. doi:10.1101/2021.06.21.449239.