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Detection of Innate and Artificial Mitochondrial DNA Heteroplasmy by Massively Parallel Sequencing: Considerations for Analysis.

Moon-Young KimSohee ChoJi Hyun LeeHee Jin SeoSoong Deok Lee
Published in: Journal of Korean medical science (2018)
In addition to the general accuracy of the MPS application on detecting heteroplasmy, our study indicates that the understanding of the nature of mitochondrial DNA and analysis algorithm would be crucial for appropriate interpretation of MPS results.
Keyphrases
  • mitochondrial dna
  • copy number
  • machine learning
  • genome wide
  • dna methylation
  • real time pcr