Abstract
Recent rapid advances in high-throughput, next-generation sequencing (NGS) technologies have promoted mitochondrial genome studies in the fields of human evolution, medical genetics, and forensic casework. However, scientists unfamiliar with computer programming often find it difficult to handle the massive volumes of data that are generated by NGS. To address this limitation, we developed MitoSuite, a user-friendly graphical tool for analysis of data from high-throughput sequencing of the human mitochondrial genome. MitoSuite generates a visual report on NGS data with simple mouse operations. Moreover, it analyzes high-coverage sequencing data but runs on a stand-alone computer, without the need for file upload. Therefore, MitoSuite offers outstanding usability for handling massive NGS data, and is ideal for evolutionary, clinical, and forensic studies on the human mitochondrial genome variations. It is freely available for download from the website https://mitosuite.com.
Highlights
The human mitochondrial genome encodes important information that governs the development of various diseases (Taylor & Turnbull, 2005)
In this study, we developed MitoSuite, a stand-alone tool which does not involve file-uploading procedures like web-based tools
Our tool is designed for better usability, especially for non-bioinformaticians unfamiliar with typing complicated commands (Fig. 2)
Summary
The human mitochondrial (mt) genome encodes important information that governs the development of various diseases (Taylor & Turnbull, 2005). There are several command-line tools available to analyze high-throughput sequencing data for the mitochondrial genome. MitoSeek (Guo et al, 2013) is one such character-based tool that provides information on mtDNA copy numbers, and alignment quality, somatic annotations, and structural variants of the mitochondrial genome.
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