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. The students will be taught to find and use major genomic and genetic data resources; use software packages, in silico tools, databases and literature searches. Specifically, students will learn to align sequence data to the reference genome, critically assess, annotate and interpret findings from genetic and genomic analyses. 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.
This is a core module that is central to the MSc programme in Genomics as it will provide the student with the skills to analyse genomic data in a graphical user interface (GUI).