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

Documentation