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

Lakshika Jayasekera, Kanchana Senanayake, Ruwandi Ranasinghe, Kamani Tennekoon


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.


Targeted Sequencing of Human mitochondrial genome, Bioinformatics pipeline for variant detection, Next Generation Sequence data analysis of mtDNA

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DOI: https://doi.org/10.14806/ej.28.0.1007


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