High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq

Jonathan L. King, Bobby L. Larue, Nicole M. Novroski, Monika Stoljarova, Seung Bum Seo, Xiangpei Zeng, David H. Warshauer, Carey P. Davis, Walther Parson, Antti Sajantila, Bruce Budowle

Research output: Contribution to journalArticlepeer-review

147 Scopus citations


Mitochondrial DNA typing in forensic genetics has been performed traditionally using Sanger-type sequencing. Consequently sequencing of a relatively-large target such as the mitochondrial genome (mtGenome) is laborious and time consuming. Thus, sequencing typically focuses on the control region due to its high concentration of variation. Massively parallel sequencing (MPS) has become more accessible in recent years allowing for high-throughput processing of large target areas. In this study, Nextera® XT DNA Sample Preparation Kit and the Illumina MiSeq™ were utilized to generate quality whole genome mitochondrial haplotypes from 283 individuals in a both cost-effective and rapid manner. Results showed that haplotypes can be generated at a high depth of coverage with limited strand bias. The distribution of variants across the mitochondrial genome was described and demonstrated greater variation within the coding region than the non-coding region. Haplotype and haplogroup diversity were described with respect to whole mtGenome and HVI/HVII. An overall increase in haplotype or genetic diversity and random match probability, as well as better haplogroup assignment demonstrates that MPS of the mtGenome using the Illumina MiSeq system is a viable and reliable methodology.

Original languageEnglish
Pages (from-to)128-135
Number of pages8
JournalForensic Science International: Genetics
StatePublished - Sep 2014


  • Discrimination power
  • Haplogroup assignment
  • Illumina MiSeq
  • Massively parallel sequencing (MPS)
  • Mitochondrial genome (mtGenome)
  • Mitochondrial haplotype


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