Success rates for genomic analyses of highly heterogeneous disorders can be greatly
improved if a large cohort of patient data is assembled to enhance collective capabilities for …

Motivation: The increasing availability of mitochondria-targeted and off-target sequencing
data in whole-exome and whole-genome sequencing studies (WXS and WGS) has risen the …

… (r), transfer (t), and messenger (m) RNAs distributed between the two [heavy (H) and light (L)]
… Lanave and M. Attimonelli, unpublished). Sequence analyses also included use of graphic …

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

We previously showed that disruptive complex I mutations in mitochondrial DNA are the
main genetic hallmark of oncocytic tumors of the thyroid and kidney. We here report a high …

DNA barcoding may be particularly important in influencing ecology, economic issues, and
the fundamental crisis facing biodiversity as a standardized, species‐level identification tool …

HmtDB ( http://www.hmtdb.uniba.it:8080/hmdb ) is a open resource created to support population
genetics and mitochondrial disease studies. The database hosts human mitochondrial …

Background Aerobic glycolysis, namely the Warburg effect, is the main hallmark of cancer
cells. Mitochondrial respiratory dysfunction has been proposed to be one of the major causes …

Background Eukaryotic nuclear genomes contain fragments of mitochondrial DNA called
NumtS (Nuclear mitochondrial Sequences), whose mode and time of insertion, as well as their …

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 …