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bioRxiv · 10.1101/2024.08.14.607907

GENOMICON-Seq: A comprehensive tool for the simulation of mutations in amplicon and whole exome sequencing

Stosic, M. S.·Costanzi, J.-M.·Ambur, O. H.·Rounge, T. B.
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Abstract

GENOMICON-Seq is a comprehensive genomic sequencing simulation tool that enables the assessment of laboratory and bioinformatics parameters influencing the detection of mutations. The tool generates genomes with mutations, mimicking processes such as low-frequency mutations, APOBEC3 activity in viruses, somatic mutations and single base substitution (SBS) mutational signals. GENOMICON-Seq adds amplicon and whole exome sequencing biases and errors. It outputs sequencing reads compatible with mutation detection tools and a report on mutation origin (generated mutations and PCR errors), nucleotide context, and position. GENOMICON-Seq aids in the evaluation of bioinformatics tools and experimental designs, reducing the need for costly real-world sequencing experiments.

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Stosic, M. S., Costanzi, J.-M., Ambur, O. H., Rounge, T. B.. 2024-08-17. GENOMICON-Seq: A comprehensive tool for the simulation of mutations in amplicon and whole exome sequencing. https://doi.org/10.1101/2024.08.14.607907

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