Ontology highlight
ABSTRACT:
SUBMITTER: Battle SL
PROVIDER: S-EPMC9112767 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
Battle Stephanie L SL Puiu Daniela D Verlouw Joost J Broer Linda L Boerwinkle Eric E Taylor Kent D KD Rotter Jerome I JI Rich Stephan S SS Grove Megan L ML Pankratz Nathan N Fetterman Jessica L JL Liu Chunyu C Arking Dan E DE
NAR genomics and bioinformatics 20220517 2
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 exist in a state of heteroplasmy, where a percentage of DNA molecules harbor a variant, or homoplasmy, where all DNA molecules have the same variant. The relative quantity of mtDNA in a cell, or copy number (mtDNA-CN), is associated with mitochondrial function, human disease, and mortality. To facilitate accurate identificati ...[more]