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.

Links