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

RNA-binding proteins (RBPs) play key roles in post-transcriptional regulation. Accurate
identification of RBP binding sites in multiple cell lines and tissue types from diverse species …

Broad-based exome sequencing has become the standard first-line diagnostic approach for
PMD. This has facilitated more rapid and accurate disease identification, and greatly …

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

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

Understanding the mechanisms of the Warburg shift to aerobic glycolysis is critical to
defining the metabolic basis of cancer. Hereditary leiomyomatosis and renal cell carcinoma …

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …

Mitochondria are subject to continuous oxidative stress stimuli that, over time, can impair
their genome and lead to several pathologies, like retinal degenerations. Our main purpose …

Individual induced pluripotent stem cells (iPSCs) show considerable phenotypic
heterogeneity, but the reasons for this are not fully understood. Comprehensively analysing …

Interest in human mitochondrial genetic data is constantly increasing among both clinicians
and researchers, due to the involvement of mitochondrial DNA (mtDNA) in a number of …