A Bioinformatics pipeline for variant discovery from Targeted Next Generation Sequencing of the human mitochondrial genome

Abstract

Sequence variants of human mitochondrial DNA (mt DNA) have been implicated in a variety of disorders and conditions. Massive parallel sequencing is becoming increasingly popular due to its efficiency and cost-effectiveness. In relation to acquiring significant sequence information like levels of heteroplasmy in mt DNA, it offers a marked improvement compared to previous methods used. Here we describe a variant calling pipeline for human mitochondrial DNA using Next Generation Sequencing (NGS) data obtained by enriching the sample only for mitochondria prior to sequencing.