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 …

The field of environmental DNA (eDNA) is advancing rapidly, yet human eDNA applications
remain underutilized and underconsidered. Broader adoption of eDNA analysis will produce …

Genomic databases of allele frequency are extremely helpful for evaluating clinical variants
of unknown significance; however, until now, databases such as the Genome Aggregation …

Mutations in mitochondrial DNA (mtDNA) play critical roles in many human diseases. In vivo
visualization of cells bearing mtDNA mutations is important for resolving the complexity of …

Newborn screening for treatable disorders is one of the great public health success stories
of the twentieth century worldwide. This commentary examines the potential use of a new …

Mitochondria carry their own circular genome and disruption of the mitochondrial genome is
associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial …

Aminoglycosides are widely used antibiotics with notable side effects, such as
nephrotoxicity, vestibulotoxicity, and sensorineural hearing loss (cochleotoxicity). MT‐RNR1 …

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders
characterised by impaired oxidative phosphorylation. Diagnosis is challenging;> 350 genes …

The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …