Abstract

Background: MitoWizz is an advanced bioinformatics tool designed for the analysis of the human mitochondrial genome, offering precise and efficient data interpretation. It enables comparisons of sequencing results obtained from various instrumental methods with the reference Andersen genome (rCRS), aiding in the identification of alterations. This capability is particularly valuable in forensic and clinical mitochondrial DNA analysis. Objective: The primary goal of developing MitoWizz is to automate and streamline mitochondrial DNA analysis, providing researchers and forensic experts with a fast, reliable, and comprehensive tool for sequence comparison, variation detection, and data validation. Methods: MitoWizz compares query sequences in opposed to the reference genome and allows direct comparison of two sequences to identify genetic variations. To ensure accuracy, the results are validated through the Clustal Omega W by aligning sequences with the human mitochondrial DNA reference from GenBank (NC_012920.1). Results: The software detected genetic variations and generated a visual report, as demonstrated in an analysis where 11 mutations were identified in various genes, with an 88% sequence identity to the reference genome. The accuracy of the detected alterations was further validated using the Omega Clustal W program. Conclusion: MitoWizz significantly reduces analysis time and enhances result reliability by integrating multiple analytical steps into a single platform. By automating mtDNA comparisons and validation, it provides forensic and research laboratories with a high-throughput, efficient solution for precise mitochondrial genome analysis.

Key words: mitochondrial DNA, SNPs, population, reliability, workflow.