vcferr: Development, Validation, and Application of a SNP Genotyping Error Simulation Framework

biorxiv(2022)

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摘要
Motivation: Genotyping error can impact downstream SNP-based analyses. Simulating various modes and and levels of error can help investigators better understand potential biases caused by miscalled genotypes. Results: We have developed and validated vcferr, a tool to probabilistically simulate genotyping error and missigness in VCF files. We demonstrate how vcferr could be used to address a research question by introducing varying levels of error of different type into a sample in a simulated pedigree, and assessed how kinship analysis degrades as a function of kind and type of error. Software Availability: vcferr is available for installation on PyPi (https://pypi.org/ project/vcferr/). The software is released under the MIT license with source code available on GitHub (https://github.com/signaturescience/vcferr). ### Competing Interest Statement The authors have declared no competing interest.
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