Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …

Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and
involved in various aspects of cellular life, with a primary role in energy production. The …