A comparison and integration of MiSeq and MinION platforms for sequencing single source and mixed mitochondrial genomes

Michael R. Lindberg; Sarah E. Schmedes; F. Curtis Hewitt; Jamie L. Haas; Krista L. Ternus; Dana R. Kadavy; Bruce Budowle

doi:10.1371/journal.pone.0167600

A comparison and integration of MiSeq and MinION platforms for sequencing single source and mixed mitochondrial genomes

Michael R. Lindberg, Sarah E. Schmedes, F. Curtis Hewitt, Jamie L. Haas, Krista L. Ternus, Dana R. Kadavy, Bruce Budowle

Center for Human ID

Research output: Contribution to journal › Article › peer-review

28 Scopus citations

Abstract

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 longread 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.

Original language	English
Article number	e0167600
Journal	PLoS ONE
Volume	11
Issue number	12
DOIs	https://doi.org/10.1371/journal.pone.0167600
State	Published - Dec 2016

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abstract = "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 longread 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.",

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AU - Haas, Jamie L.

AU - Ternus, Krista L.

AU - Kadavy, Dana R.

AU - Budowle, Bruce

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A comparison and integration of MiSeq and MinION platforms for sequencing single source and mixed mitochondrial genomes

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