Aim of this module
This rotation will provide trainees with background knowledge of genetics and a knowledge and understanding of bioinformatics tools and infrastructure. They will understand the aims and operation of a genetics laboratory service. They will understand the role of bioinformatics and the bioinformatician in supporting the laboratory service, and the effect of data and its analysis on patient care. In particular it will show how bioinformatics strategies can be used and applied to genomic and genetic data to generate information and knowledge that contributes to patient care and care pathways within a clinical setting. It will also introduce the ethical and governance framework appropriate for working with patient data in an NHS setting.
|Number||Work-based learning outcome||Title||Knowledge|
Take a protein sequence and use standard bioinformatic tools to locate within a genome, annotate and infer function.
Take a DNA sequence and use standard bioinformatic tools to locate within a genome, annotate and infer function, including gene prediction, transcription factor (TF) analysis, splice-site boundaries potential for copy number variants (CNVs).
Use three clinical cases to demonstrate the application of bioinformatic tools to common genetic scenarios.
Identify variation within genetic sequence data captured from various sources.
Reconstruct and interpret the relationship between individual sequences using phylogenetic analysis.
Analyse variants using literature and bioinformatic tools or resources to predict consequence and determine significance within patient care.
Follow standard protocols or agreed procedures for sequence annotation and analysis.
Make accurate records of all work carried out.
Communicate results in a way that is useful to the clinical team, highlighting their findings.
|You must complete|
|1 Case-based discussion(s)|
|1 of the following DOPS / OCEs|
|Using available tools take a fragment of DNA sequence and translate into protein sequence, search within a protein database to find matches and determine function||DOPS|
|Annotate DNA sequence data, and for the longest transcript of the chosen gene identify the exon boundaries.||DOPS|
|For a given gene, obtain protein sequences and use sequence alignment tools to produce a multiple sequence alignment.||DOPS|
|Find the population frequency of a variant||DOPS|
|Given an example of a structural variant, identify the genes and their functions, including CMVs of no clinical significance||DOPS|
|Participate in MDT meetings with other health professionals||OCE|
|Attend a clinic as an observer and explain your role to the patient||OCE|
The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.