Genotypechecker: an interactive tool for checking the inheritance consistency of genotyped pedigrees

Area of Science:

• Genetics
• Bioinformatics
• Computational Biology

Background:

• Datapoint errors in genetic datasets can compromise downstream analyses.
• Identifying and correcting these errors in pedigree genotype data is challenging.

Purpose of the Study:

• To introduce GenotypeChecker, a desktop tool for data cleansing of genetic datasets.
• To assist researchers in identifying and correcting errors in pedigree genotype data.

Main Methods:

• GenotypeChecker employs an inheritance-checking algorithm for each genetic marker across a pedigree.
• It highlights inconsistently inherited genotypes within an interactive user interface.
• The tool allows users to mask suspect data points and re-evaluate consistency for cleansing.

Main Results:

• The software effectively identifies likely data errors in pedigree/genotype datasets.
• It provides a user-friendly interface for exploring and confirming erroneous datapoints.
• Facilitates the cleansing of inconsistent genotype data.

Conclusions:

• GenotypeChecker is a valuable tool for improving the quality of genetic data.
• Accurate genotype data is crucial for reliable genetic analyses.
• The software is freely available to the research community.