Mutation Reporter: fast identification of mutations in NGS files
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Summary
Next-generation sequencing (NGS) has accelerated precision medicine by enabling analysis of multiple genes at once and detection of low-frequency mutations. Nevertheless, there is a paucity of software applications enabling users not trained in bioinformatics to discern and adjust the quality parameters employed for analyzing sequencing data, which yield the output containing detected mutations alongside their corresponding variant allele frequency (VAF). Mutation Reporter was developed to identify point mutations, offering users the ability to adjust parameters including alignment e-value, minimum read size, minimum read depth, and minimum reported VAF.
Availability and implementation
Mutation Reporter is available to users through a free GNU software license and can be accessed on GitHub ( https://github.com/meidanis-lab/mutation-reporter ) and as a Code Ocean capsule ( https://codeocean.com/capsule/4682823/tree/v1 ).
