Variation in the mitochondrial DNA (mtDNA) sequence is common in certain tumours. Two
classes of cancer mtDNA variants can be identified: de novo mutations that act as 'inducers' …

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 …

Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

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

Mitochondrial disorders have emerged as a common cause of inherited disease, but are
traditionally viewed as being difficult to diagnose clinically, and even more difficult to …

Objective Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by
inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute …

Mitochondria are the primary source of energy production and are implicated in a wide
range of biological processes in most eukaryotic cells. Skeletal muscle heavily relies on …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Next‐generation sequencing has led to an unparalleled pace of Mendelian disease gene
discovery in recent years. To address the challenges of analysis and sharing of large …