MitoSuite: a graphical tool for human mitochondrial genome profiling in massive parallel sequencing

• Main Authors: Koji Ishiya, Shintaroh Ueda
• Format: Article
• Language: English
• Published: PeerJ Inc. 2017-05-01
• Series: PeerJ
• Subjects: MitoSuite; Mitochondrial genome; Next-generation sequencing; Graphical tool; Massively parallel sequencing
• Online Access: https://peerj.com/articles/3406.pdf

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.