A Bioinformatics pipeline for variant discovery from Targeted Next Generation Sequencing of the human mitochondrial genome
نویسندگان
چکیده
Sequence variants of human mitochondrial DNA (mt DNA) have been implicated in a variety disorders and conditions. Massive parallel sequencing is becoming increasingly popular due to its efficiency cost-effectiveness. In relation acquiring significant sequence information like levels heteroplasmy mt DNA, it offers marked improvement compared previous methods used. Here we describe variant calling pipeline for using Next Generation Sequencing (NGS) data obtained by enriching the sample only mitochondria prior sequencing.
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ژورنال
عنوان ژورنال: EMBnet.journal
سال: 2022
ISSN: ['2226-6089']
DOI: https://doi.org/10.14806/ej.28.0.1007