Previously: Omics techniques and their application to genomic medicine. About the module name changes
About this module
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.
Before the module
Suggested preparation
Module-specific materials and instructions are provided through your course Moodle/VLE. These refreshers are optional support, not additional assessment requirements.
What you will study
- Basis of genotyping and detection of genetic variation
- Whole exome and whole genome sequencing, including library preparation methods, sequencing chemistries and platforms
- Hands-on practical experience of an ‘omics’ workflow from sample to analysed data
- Brief overview of methodologies for detecting base substitutions (SNV), small insertions and deletions (indels), copy number variants (CNV) or rearrangements, to include Sanger sequencing, pyrosequencing, ARMS, MLPA, qFPCR, microarray
- Genomic testing strategies as: gene focused, multiple genes, or whole genome or exome, and for detection of sequence, copy number or rearrangements
- RNA expression profiling (expression array) and RNA sequencing
- Metabolomics and proteomics techniques
- Overview of bioinformatics approaches to the analysis of genomic data using Galaxy
Learning objectives
By the end of this module you will be able to:
- Describe and critically evaluate a range of up-to-date genomic technologies and platforms used to sequence targeted parts of the genome or whole genomes
- Discuss the application of other techniques (for example array comparative genome hybridisation, qPCR) commonly used to interrogate genomic variation in the clinical setting using examples in cancer and rare inherited diseases and infectious diseases
- Acquire the knowledge of selecting appropriate technology platforms for applications in medical genomics either for research or medical diagnostic purposes
- Critique how these techniques and their applications in RNA expression can be applied to metabolomics and proteomic analysis
- Discuss and critically appraise approaches to the bioinformatics analysis and interpretation of ‘omics’ data
- Critically evaluate the different ‘omics’ technologies and platforms and their application to genomic medicine and the impact of personalised medicine
Teaching
9–13 November 2026
School of Clinical Medicine, Hills Road, Cambridge CB2 0QQ
Learning objectives follow the 2026–27 curriculum, including programme-team updates.