A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data

SL Battle, D Puiu… - NAR Genomics and …, 2022 - academic.oup.com
Mitochondrial diseases are a heterogeneous group of disorders that can be caused by
mutations in the nuclear or mitochondrial genome. Mitochondrial DNA (mtDNA) variants may …

The association between lymphocyte mitochondrial DNA abundance and Stroke: a combination of multivariable-adjusted survival and mendelian randomization …

LG Martens, J Luo, MJH Wermer, KW van Dijk, S Hägg… - medRxiv, 2021 - medrxiv.org
Abstract Background and Purpose Mitochondrial dysfunction is associated with increased
Reactive Oxygen Species that are thought to drive risk of disease, including stroke. We …