Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data

@article{Zhang2016MitochondriaSM,
  title={Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data},
  author={Pan Zhang and David C. Samuels and Brian D. Lehmann and Thomas Stricker and Jennifer A. Pietenpol and Shyr Yu and Yan Guo},
  journal={Briefings in bioinformatics},
  year={2016},
  volume={17 2},
  pages={
          224-32
        }
}
The rapid progress in high-throughput sequencing has significantly enriched our capacity for studying the mitochondrial DNA (mtDNA). In addition to performing specific mitochondrial targeted sequencing, an increasingly popular alternative approach is using the off-target reads from exome sequencing to infer mtDNA variants, including single nucleotide polymorphisms (SNPs) and heteroplasmy. However, the effectiveness and practicality of this approach have not been tested. Recently, RNAseq data… CONTINUE READING
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