Ontology highlight
ABSTRACT:
SUBMITTER: Payne BA
PROVIDER: S-EPMC3526165 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Payne Brendan A I BA Wilson Ian J IJ Yu-Wai-Man Patrick P Coxhead Jonathan J Deehan David D Horvath Rita R Taylor Robert W RW Samuels David C DC Santibanez-Koref Mauro M Chinnery Patrick F PF
Human molecular genetics 20121016 2
Mammalian cells contain thousands of copies of mitochondrial DNA (mtDNA). At birth, these are thought to be identical in most humans. Here, we use long read length ultra-deep resequencing-by-synthesis to interrogate regions of the mtDNA genome from related and unrelated individuals at unprecedented resolution. We show that very low-level heteroplasmic variance is present in all tested healthy individuals, and is likely to be due to both inherited and somatic single base substitutions. Using this ...[more]