Module overview
This module explores the state-of-the-art genomics techniques used for DNA sequencing (e.g. targeted approaches, whole-exome and whole-genome sequencing) and RNA sequencing, together with current technologies routinely used to investigate genomic variation in both clinical and research settings.
The module will cover the fundamental principles of informatics and bioinformatics applied to genomics. Theoretical sessions will be coupled with practical assignments of analysing and annotating predefined data sets.
A comprehensive introduction to the functional interpretation of genomic data will be included. Students will also learn about the strategies employed to evaluate pathogenicity of variants for reporting and acquire the skills to analyse genomic data in a graphical user interface.