VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing

Althagafi, A. T.; Hoehndorf, R.

doi:10.1101/529461

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bioRxiv · 10.1101/529461

VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing

Althagafi, A. T.·Hoehndorf, R.

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Abstract

BackgroundInterpretation of personal genomics data, for example in genetic counseling, is challenging due to the complexity of the data and the amount of background knowledge required for its interpretation. This background knowledge is distributed across several databases. Further information about genomic features can also be predicted through machine learning methods. Making this information accessible more easily has the potential to improve interpretation of variants in personal genomes. ResultsWe have developed VSIM, a web application for the interpretation and visualization of variants in personal genome sequences. VSIM identifies disease variants related to Mendelian, complex, and digenic disease as well as pharmacogenomic variants in personal genomes and visualizes them using a webserver. VSIM can further be used to simulate populations of children based on two parent genomes, and can be applied to support premarital genetic counseling. We make VSIM available as source code as well as through a container that can be installed easily in network environments in which genomic data is specially protected. VSIM and related documentation is freely available at https://github.com/bio-ontology-research-group/VSIM. ConclusionsVSIM is a software that provides a web-based interface to variant interpretation in genetic counseling. VSIM can also be used for premarital genetic screening by simulating a population of children and analyze the disorder they might be carrying.

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Althagafi, A. T., Hoehndorf, R.. 2019-01-24. VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing. https://doi.org/10.1101/529461

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