Omics techniques and the application to genomic medicine (For CPPD)

This module explores the state of the art genomics techniques used for DNA sequencing (targeted approaches, whole exome and whole genome sequencing) and RNA sequencing, using highly parallel techniques, together with current technologies routinely used to investigate genomic variation in the clinical setting.

This module will introduce the bioinformatics approaches required for the analysis of genomic data, which together with data governance covered in GM1 will provide a solid foundation for the Bioinformatics and Statistics modules. The module will also cover the use of array-based methodologies and RNA sequencing in estimating levels of protein expression, micro RNAs and long non–coding RNAs. A comprehensive introduction to metabolomics and proteomics, which are important for the functional interpretation of genomic data and discovery of disease biomarkers will also be included. Students will also learn about the strategies employed to evaluate pathogenicity of variants for clinical reporting.

Teaching of these core technologies and introductory bioinformatics will be facilitated in part by hands-on production of genomic data in which students will take DNA samples through an entire ‘omics’ workflow.