title: A Comparison and Integration of MiSeq and MinION Platforms for Sequencing Single Source and Mixed Mitochondrial Genomes.
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 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.
authors.affiliation: Signature Science, LLC, Austin, Texas, United States of America.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Lindberg
authors.affiliation: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, Texas, United States of America.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Schmedes
authors.affiliation: Signature Science, LLC, Austin, Texas, United States of America.
authors.forename: F Curtis
authors.initials: FC
authors.lastname: Hewitt
authors.affiliation: Signature Science, LLC, Austin, Texas, United States of America.
authors.forename: Jamie L
authors.initials: JL
authors.lastname: Haas
authors.affiliation: Signature Science, LLC, Austin, Texas, United States of America.
authors.forename: Krista L
authors.identifier: http://orcid.org/0000-0003-1138-5308
authors.initials: KL
authors.lastname: Ternus
authors.affiliation: Signature Science, LLC, Austin, Texas, United States of America.
authors.forename: Dana R
authors.initials: DR
authors.lastname: Kadavy
authors.affiliation: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, Texas, United States of America.|Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Bruce
authors.initials: B
authors.lastname: Budowle
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005787:Gene Frequency; D054629:Genome, Mitochondrial; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000295:instrumentation*
chemical_list: D004272:DNA, Mitochondrial