spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...

Highly abundant microRNAs (miRNAs) in small RNA sequencing libraries make it difficult to obtain efficient measurements of more lowly expressed species. We present a new method that allows for the selective blocking of specific, abundant miRNAs during preparation of sequencing libraries. This technique is specific with little off-target effects and has no impact on the reproducibility of the me...

We have developed a targeted next generation sequencing (NGS) methodology for sensitive DNA variant detection that is highly optimized for clinical specimens and enables the accurate detection of clinically actionable mutations from low input DNA quantities. This strategy provides reliable, uniform, and high depth (>1000x) sequencing across gene regions representing >500 known cancerassociated ...

In this review, we discuss the latest targeted enrichment methods and aspects of their utilization along with second-generation sequencing for complex genome analysis. In doing so, we provide an overview of issues involved in detecting genetic variation, for which targeted enrichment has become a powerful tool. We explain how targeted enrichment for next-generation sequencing has made great pro...

Promising targeted therapy and personalized medicine are making molecular profiling of tumours a priority. For colorectal cancer (CRC) patients, international guidelines made RAS (KRAS and NRAS) status a prerequisite for the use of anti-epidermal growth factor receptor agents (anti-EGFR). Daily, new data emerge on the theranostic and prognostic role of molecular biomarkers, which is a strong in...

The role of epigenetic processes in the control of gene expression has been known for a number of years. DNA methylation at cytosine residues is of particular interest for epigenetic studies as it has been demonstrated to be both a long lasting and a dynamic regulator of gene expression. Efforts to examine epigenetic changes in health and disease have been hindered by the lack of high-throughpu...