Salvatore Alaimo, University of Catania, Catania, ITALY

Next-Generation Sequencing in practice: bioinformatics analysis techniques and some medical applications
In recent years, the development of sequencing techniques enabled the building of technologies, which can greatly simplify the analysis of genomes, mainly investigating the alterations causing susceptibility or formation of pathological phenomena. Reduction of time and costs introduced by Next-Generation Sequencing (NGS) techniques presents a huge potential for application in medical practice, and development of personalized therapies. However, a major drawback of such techniques is the huge amount of produced data, making classical analysis methodologies unfeasible. In order to manage and analyze such data, a variety of bioinformatics analysis techniques have been developed. In this tutorial, we will describe some of the most common NGS data analysis pipelines, and some of their present and future applications in medical practice.