Transcript alterations often result from somatic changes in cancer genomes 1 . Various forms
of RNA alterations have been described in cancer, including overexpression 2 , altered …

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 …

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 …

Most human protein-coding genes are regulated by multiple, distinct promoters, suggesting
that the choice of promoter is as important as its level of transcriptional activity. However, …

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 …

Mitochondrial DNA (mtDNA) variants influence the risk of late-onset human diseases, but
the reasons for this are poorly understood. Undertaking a hypothesis-free analysis of 5,689 …

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 …

Objective To determine whether whole genome sequencing can be used to define the molecular
basis of suspected mitochondrial disease. Design Cohort study. Setting National Health …

The HmtDB resource hosts a database of human mitochondrial genome sequences from
individuals with healthy and disease phenotypes. The database is intended to support both …