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A Comparison and Integration of MiSeq and MinION Platforms for Sequencing Single Source and Mixed Mitochondrial Genomes.

Michael R LindbergSarah E SchmedesF Curtis HewittJamie L HaasKrista L TernusDana R KadavyBruce Budowle
Published in: PloS one (2016)
Single source and multiple donor (mixed) samples of human mitochondrial DNA were analyzed and compared using the MinION and the MiSeq platforms. A generalized variant detection strategy was employed to provide a cursory framework for evaluating the reliability and accuracy of mitochondrial sequences produced by the MinION. The feasibility of long-read phasing was investigated to establish its efficacy in quantitatively distinguishing and deconvolving individuals in a mixture. Finally, a proof-of-concept was demonstrated by integrating both platforms in a hybrid assembly that leverages solely mixture data to accurately reconstruct full mitochondrial genomes.
Keyphrases
  • mitochondrial dna
  • oxidative stress
  • copy number
  • endothelial cells
  • single cell
  • electronic health record
  • single molecule
  • big data
  • artificial intelligence
  • dna methylation
  • high resolution
  • label free
  • data analysis