This module explores current genomics techniques used for DNA sequencing (e.g. targeted approaches, whole exome and whole genome sequencing) and RNA sequencing, using highly parallel methodologies, 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. 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. An 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.
Learning Outcomes
By the end of the module students should be able to:
Critically evaluate a range of up-to-date genomic techniques and platforms used to interrogate targeted parts of the genome or whole genomes
Critically evaluate the application of current genomic techniques and technologies in clinical and research settings using examples in cancer, common and rare inherited diseases, and infectious diseases
Critically evaluate a range of techniques used to assess the transcriptome
Evaluate the role of metabolomics and proteomics in the functional interpretation of genomic data
Justify the approaches to the bioinformatics analysis and interpretation of ‘omics’ data
Evaluate the approaches required to evaluate the pathogenicity of variants identified in whole genome sequencing and other genomic technologies
Assessment
37202-01 : Overall Module Mark : Mixed (100%)
Assessment Methods & Exceptions
Assessment:
2 hour written exam 50%
Coursework total 50%: 1. Poster presentation and oral defence of poster 2. Written synopsis of poster and defence of choice of topic and content
eassessment: Academic failure: Students are required to repeat failed components only Failure to submit: Submission of coursework is compulsory for the programme. Students are advised that failure to submit without justifiable reason could result in failure of the module. Students will be required to submit outstanding work to meet the module outcomes