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.

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