Academic leads: Dr Samantha Butler and Dr Yvonne Wallis

Module code: 01 27579

Credits: 15

Attendance: Teaching delivered as a five-day block (Monday-Friday, 09:30-17:30)

Module dates: 16-20 April 2018

Learning hours: 150 hours – teaching and private study

Related modules: An introduction to human genetics and genomics

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, 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 Module 1 (An Introduction to Human Genetics and Genomics) will provide a solid foundation for the Bioinformatics and Statistics module. 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.

By the end of the module students should 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, MLPA, 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
  • Discuss the approaches required to evaluate the pathogenicity of variants identified in whole genome sequencing and other genomic technologies

Assessment: The module will be assessed via a short presentation, and an exam including short answer questions and a choice of essay (exam typically about 5–6 weeks after the teaching).