Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …

Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of
metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype…

The accurate quantification of cellular and mitochondrial bioenergetic activity is of great interest
in medicine and biology. Mitochondrial stress tests performed with Seahorse Bioscience …

Mitochondrial disorders manifest enormous genetic and clinical heterogeneity-they can appear
at any age, present with various phenotypes affecting any organ, and display any mode …

In the field of diagnostics of rare diseases, RNA-seq is emerging as an important and
complementary tool for whole exome and whole genome sequencing. OUTRIDER is a framework …

State-of-the-art OCR algorithm for the translation guiding considering the online-offline
combinational model is studied in this paper. The difficulty of the handwritten character …

The diagnosis of mitochondrial disorders has recently changed towards utilization of Next
Generation Sequencing techniques. The identification of novel disease genes demands …