Clinical Bioinformatics is a knowledge framework required to interpret data of medical
interest via computational methods. This area became of dramatic importance in precision …

The advent of the polymerase chain reaction and the availability of data from various global
human genome projects should make it possible, using a DNA sample isolated from white …

Cancer therapy is currently shifting from broadly used cytotoxic drugs to patient-specific
precision therapies. Druggable driver oncogenes, identified by molecular analyses, are …

Abstract Next Generation Sequencing (NGS) technologies has revolutionized genomics
data research by facilitating high-throughput sequencing of genetic material that comes from …

Background The study of RNA has been dramatically improved by the introduction of Next
Generation Sequencing platforms allowing massive and cheap sequencing of selected RNA …

Abstract Interpretation of the multitude of variants obtained from next generation sequencing
(NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the …

Neonatal diabetes mellitus (NDM) is a rare form of diabetes diagnosed within the first 6
months of life. Genetic studies have allowed the identification of several genes linked to the …

Next generation sequencing (NGS) has been a great success and is now a standard method
of research in the life sciences. With this technology, dozens of whole genomes or hundreds …

Background The advent and ongoing development of next generation sequencing
technologies (NGS) has led to a rapid increase in the rate of human genome re-sequencing …

Whole genome and exome sequencing (WGS/WES) are the most popular next‐generation
sequencing (NGS) methodologies and are at present often used to detect rare and common …