Article
mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets.
Human mutation - 1 Apr 2015
Vellarikkal Shamsudheen Karuthedath, Dhiman Heena, Joshi Kandarp, Hasija Yasha, Sivasubbu Sridhar, Scaria Vinod
Abstract excerpt
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 (NGS)...
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