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

Authors

  • Lakshika Jayasekera Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
  • Kanchana Senanayake Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
  • Ruwandi Ranasinghe Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
  • Kamani Tennekoon Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo

DOI:

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

Keywords:

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

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.

Author Biographies

  • Lakshika Jayasekera, Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
    PhD Student
  • Kanchana Senanayake, Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
    Assistant Network Manager/PhD Student
  • Ruwandi Ranasinghe, Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
    Scientific Assistant-DNA Sequencing
  • Kamani Tennekoon, Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
    Senior Profesor of Molecular Life Scinces

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Published

2022-09-30

Issue

Vol. 28

Section

Research Papers

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