Next Generation Sequencing Data Analysis with clinical applications

Human genome sequencing is increasingly used in a variety of health care systems. This laboratory method is used daily to identify changes (mutations or gene expression profiles) that may contribute to a diagnosis and/or treatment selection. In this course we will focus on the analysis and interpretation of clinical NGS data by applying various bioinformatics webtools. <br> We will cover essential concepts in molecular biology and genetics, principles on NGS applications (with a focus on targeted resequencing and RNA sequencing). Besides, you will practice how to analyze NGS data from its quality assessment, pre-processing (filtering and mapping), variant calling and gene expression to its functional interpretation and visualization. Most analyses will be performed using Galaxy ([https://usegalaxy.eu/)](<https://usegalaxy.eu/)>), an open source, web-based platform for data intensive biomedical research. Note that no command line tools will be used. For data visualization and statistical analysis, you will be introduced to R, a widely used statistical tool (no prior knowledge is require). <br> The course will be given in English and it includes a combination of lectures, practical sessions and home assignments.<br> Computer and internet access are required since all communication concerning the course and relevant documents, such as lectures, exercises and literature, will be posted at the virtual learning environment.