PreMeta
PreMeta converts and harmonizes study-level summary statistics produced by MASS, RAREMETAL, MetaSKAT, and seqMeta to enable meta-analysis of rare-variant sequencing studies.
Key Features:
- Compatibility Resolution: Resolves incompatibility issues from using MASS, RAREMETAL, MetaSKAT, and seqMeta by reformatting summary statistics from text files, binary files, and R data files into a common format for integration.
- Format Translation: Translates study-level summary statistics between MASS, RAREMETAL, MetaSKAT, and seqMeta formats to enable meta-analyses without repeating initial study-level analyses in consortium settings.
- Error Checking and Correction: Identifies and corrects allele mismatches in summary statistics to preserve data integrity for subsequent meta-analysis.
- Rescaling Capability: Applies rescaled inverse normal transformation by adjusting summary statistics to maintain statistical consistency across studies with different measurement scales.
- Computational Efficiency: Reduces the need to repeat study-level analyses, decreasing computational time and resource use for large-scale sequencing consortia.
Scientific Applications:
- Cross-study rare-variant meta-analysis: Combines summary statistics from sequencing studies analyzed with MASS, RAREMETAL, MetaSKAT, or seqMeta to support rare-variant association meta-analyses.
- Consortium harmonization: Harmonizes summary statistics across analytical platforms to support reproducible genetic studies of complex diseases.
Methodology:
Accepts output files from MASS, RAREMETAL, MetaSKAT, and seqMeta; reformats text, binary, and R data files into a common summary-statistic format; performs allele mismatch correction; and applies rescaled inverse normal transformation by adjusting summary statistics.
Topics
Details
- License:
- GPL-3.0
- Maturity:
- Mature
- Cost:
- Free of charge
- Tool Type:
- library
- Operating Systems:
- Linux
- Programming Languages:
- C++
- Added:
- 7/17/2018
- Last Updated:
- 6/16/2020
Operations
Publications
Tang Z, Bunn P, Tao R, Liu Z, Lin D. PreMeta: a tool to facilitate meta-analysis of rare-variant associations. BMC Genomics. 2017;18(1). doi:10.1186/s12864-017-3573-1. PMID:28196472. PMCID:PMC5310051.
PMID: 28196472
PMCID: PMC5310051
Funding: - National Institutes of Health: 5K12HD043483-14, P01CA142538, R01CA082659