Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses,
revealing mutational signatures, imprints of DNA damage, and repair processes that have …

Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by
the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To …

While many genetic diseases have effective treatments, they frequently progress rapidly to
severe morbidity or mortality if those treatments are not implemented immediately. Since …

Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published
by EuroGentest in order to assist laboratories in the implementation and accreditation of …

Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs)
with more than 30 already known disease-causing genes. Uncertain phenotypes and …

The human mitochondrial genome must be replicated and expressed in a timely manner to
maintain energy metabolism and supply cells with adequate levels of adenosine …

Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing
when their protein product would disrupt normal cellular function. This silencing is largely …

Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not
well understood. Several pathways governed by the primary cilium, a sensory antenna …