Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Mitochondria play a critical role in regulating cellular functions including bioenergetics,
calcium homeostasis, redox signalling, and apoptotic cell death. Mitochondria are also …

Mitochondria are complex organelles that house essential pathways involved in energy
metabolism, ion homeostasis, signalling and apoptosis. To understand mitochondrial …

Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …

DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the
endosymbiotic event—the majority of nuclear-mitochondrial segments (NUMTs) are thought …

Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly
due to a lack of genotype calling and quality-control procedures. Developing an at-scale …

Diagnostic re-sequencing plays a central role in medical and evolutionary genetics. In this
report we describe a process that applies fluorescence-based re-sequencing and an …

The date for the initial colonization of Sahul is a key benchmark in human history and the
topic of a long-running debate. Most analysts favor either a 40,000 BP or 60,000 BP arrival …

Mutations in human mitochondrial DNA influence aging, induce severe neuromuscular
pathologies, cause maternally inherited metabolic diseases, and suppress apoptosis. Since …

Respiratory chain deficiencies have long been regarded as neuromuscular diseases mostly
originating from mutations in the mitochondrial DNA. Actually, oxidative phosphorylation, ie …