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

Mitochondrial diseases are highly heterogeneous on the clinical, biochemical, and genetic
level. In the traditional diagnostic approach (“biopsy first”) the evaluation of the affected …

Next-generation sequencing increasingly enables the detection of the genetic cause in
highly heterogeneous diseases like NMDs in an efficient and affordable way. Gene panel …

Mitochondrial diseases are characterised by clinical, molecular and functional
heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2 …

Introduction: The arrival of next-generation sequencing has brought about a revolution in
genomic analysis of disease. One of the major bottlenecks delaying uptake of whole exome …

Informatics and life sciences (molecular biology and medicine) are undoubtedly the most
rapidly growing, most dynamic endeavors of modern societies. Computational biology or …

Any individual's genome contains∼ 4-5 million genetic variants that differ from reference,
and understanding how these variants give rise to trait diversity and disease susceptibility is …

In characterizing a disease, it is common to search for dysfunctional genes by assaying the
transcriptome. The resulting differentially expressed genes are typically assessed for shared …

Exemples de variations nucléotidiques conduisant à des modifications quantitatives ou
qualitatives des ARN messagers. A. Variation intronique révélant un site cryptique …

With the complete knowledge about the DNA sequence of human and other model
organisms like yeast, the foundation for a new, technology-driven era of biological research …