Parsing apart the contributors of mitochondrial DNA mixtures with massively parallel sequencing data

Abstract

The data generated from massively parallel sequencing (MPS) technologies offer new avenues for the analysis and interpretation of mitochondrial DNA (mtDNA) mixture samples. Two-person mixtures at nuclear DNA ratios of 1:1, 1:5, 1:10, and 1:20 were prepared, and the mitochondrial genomes of these samples were sequenced using the Precision ID mtDNA Whole Genome Panel, Ion Chef, and Ion PGM sequencer (Thermo Fisher Scientific) workflow. The generated data were used to evaluate deconvolution of the mixed mtDNA samples. Results showed successful identification of the major contributor’s haplotype in each of the mixed samples that were evaluated.