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By the end of this module the student will be able to:

1. 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

2. Discuss the application of other techniques (for example array comparative genome hybridisation, MLPA, qPCR) commonly used to interrogate genomic variation in the clinical setting in cancer

3. Appraise and select appropriate genomic platforms for applications in medical genomics either for research or medical diagnostic purposes

4. Discuss how these techniques can be applied to RNA sequencing, metabolomics and proteomic analysis

5. Discuss approaches to the bioinformatics analysis and interpretation of ‘omics’ data

6. Critically evaluate the various ‘omics technologies and platforms and their application to medicine and the potential impact of personalised medicine

7. Discuss the approaches required to evaluate the pathogenicity of variants identified in whole genome sequencing and other genomic technologies. 

Indicative Content:

  • Basis of genotyping and detection of genetic variation: whole exome and whole genome sequencing, including library preparation methods, sequencing chemistries and platforms
  • 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
  • Additional techniques: expression microarrays and RNA sequencing, proteomics, metabolomics
  • Overview of data generated with the different techniques and bioinformatic approaches to their analysis
  • Approaches to the evaluation of pathogenicity of variants in the context of an NHS clinical report.