Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing

  • Meagan E. Palculict
  • Victor Wei Zhang
  • Lee-Jun Wong
  • Jing WangEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1351)


Next-generation sequencing (NGS) based on massively parallel sequencing (MPS) of the entire 16,569 bp mitochondrial genome generates thousands of reads for each nucleotide position. The high-throughput sequence data generated allow the detection of mitochondrial DNA (mtDNA) point mutations and deletions with the ability to accurately quantify the mtDNA point mutation heteroplasmy and to determine the deletion breakpoints. In addition, this method is particularly sensitive for the detection of low-level mtDNA large deletions and multiple deletions. It is by far the most powerful tool for molecular diagnosis of mtDNA disorders.

Key words

Mitochondrial whole genome Next-generation sequencing Massively parallel sequencing mtDNA mutation heteroplasmy mtDNA deletions 


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Meagan E. Palculict
    • 1
  • Victor Wei Zhang
    • 1
  • Lee-Jun Wong
    • 1
  • Jing Wang
    • 1
    Email author
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

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