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Published on: August 15, 2019
Genotypechecker: an interactive tool for checking the inheritance consistency of genotyped pedigrees
1Division of Genetics and Genomics, The Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Edinburgh EH25 9PS, UK. trevor.paterson@roslin.ed.ac.uk
Abstract:
Datapoint errors in pedigree genotype data sets are difficult to identify and adversely affect downstream genetic analyses. We present GenotypeChecker, a desktop software tool for assisting data cleansing. The application identifies likely data errors in pedigree/genotype data sets by performing an inheritance-checking algorithm for each marker across the pedigree, and highlights inconsistently inherited genotypes in an exploratory user interface. By 'masking' suspect datapoints and rechecking inheritance consistency, erroneous datapoints can be confirmed and cleansed from the data set. The software, examples and documentation are freely available at http://bioinformatics.roslin.ac.uk/genotypechecker.
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