Course info

Objectives

The aims of the course are that the student should be able to explain and give examples of how different types of genomics profiles can be utilized in diagnostics and personalized medicine that is based on molecular subtyping of patients. Furthermore, the course provides training in the critical evaluation of sequencing data (especially whole genome and targeted DNA sequencing) by understanding key steps in the data generation, principles of data analysis tools, and challenges in prioritizing the DNA variants from the collected results. 

On completion of the course, the student should be able to: 

• understand how short-read sequencing data is generated and the basic quality control steps, 
• explain how DNA variants can be analysed from deep sequencing data, 
• understand the conceptual framework of Bayesian statistics, 
• use graphical-user-interface bioinformatics tools including genome-browsers and variant annotation tools, 
• have a basic understanding of how bioinformatics workflows for genomics data are set up and benchmarked,
  
• understand results across multiple sequencing modalities and how such data collected across multiple cohorts can be accessed and utilized via multi-omics data portals.