The human mitochondrial genome has been reported to have a very high mutation rate as compared with the nuclear genome. A large number of mitochondrial mutations show significant phenotypic association and are involved in a broad spectrum of diseases. In recent years, there has been a remarkable progress in the understanding of mitochondrial genetics. The availability of Next Generation Sequencing technologies have not only reduced sequencing cost by orders of magnitude but has also provided us good quality mitochondrial genome sequences with high coverage, thereby enabling decoding of a number of human mitochondrial diseases. In this study, we report a computational and experimental pipeline to decipher the human mitochondrial DNA (mtDNA) variations and examine them for their clinical correlation. As a proof of principle, we also present a clinical study of a patient with Leigh disease and confirmed maternal inheritance of the causative allele. The pipeline is made available as a user-friendly online tool to annotate variants and find haplogroup, disease association and heteroplasmic sites. To the best of our knowledge, this is the first and the most comprehensive tool for clinical evaluation of mitochondrial genomic variations from Next Generation Sequencing datasets. The tool is freely available at http://genome.igib.res.in/mitomatic/. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.