Pedcheck
Pedcheck identifies Mendelian genotype incompatibilities in pedigree data to detect erroneous genotypes that could compromise linkage analysis.
Key Features:
- Error-checking algorithms: Implements four distinct error-checking algorithms to detect different types of pedigree errors.
- Parent-offspring compatibility checks: Includes parent-offspring compatibility testing to flag direct Mendelian violations.
- Single-locus likelihood-based statistics: Uses single-locus likelihood-based statistics to identify and rank individuals most likely to contain errors.
- Scalability: Performs rapid processing of large datasets for efficient error screening.
- Input formats: Supports multiple input formats for pedigree and genotype data.
- Diagnostic output: Produces detailed diagnostic information to guide correction of identified inconsistencies.
- Algorithmic foundation: Employs algorithms derived from VITESSE.
Scientific Applications:
- Linkage analysis quality control: Detects and removes Mendelian inconsistencies prior to linkage analysis to prevent spurious results.
- Mendelian inconsistency detection: Identifies erroneous genotypes and ranks likely error carriers within pedigrees.
- Large-pedigree curation: Facilitates error detection and correction in extensive pedigrees where manual checking is impractical.
Methodology:
Applies a suite of four error-checking algorithms, including parent-offspring compatibility tests and single-locus likelihood-based statistics, to input pedigree/genotype data and outputs detailed diagnostics.
Topics
Details
- Tool Type:
- command-line tool
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- C++, C
- Added:
- 12/18/2017
- Last Updated:
- 11/25/2024
Operations
Publications
O'Connell JR, Weeks DE. PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis. The American Journal of Human Genetics. 1998;63(1):259-266. doi:10.1086/301904. PMID:9634505. PMCID:PMC1377228.