Bioinformatics, Interpretation and Data Quality Assurance in Genome Analysis

Module overview

The module will cover the fundamental principles of informatics, the impact of bioinformatics on clinical genomics, and the ethical, legal and social issues that need to be considered. Students will be expected to be able to find and use major genomic and genetic data resources; use software packages and analysis tools for big data and undertake literature searches to critically assess, annotate and interpret findings from sequence data and genetic variants. Theoretical sessions will be coupled with practical exercises involving the analysis and annotation of predefined data sets.

This module will equip the student with the essential skills to analyse genomic data, applying professional best practice guidelines. Upon completion of this module students will be able to understand how bioinformatics is used to analyse, interpret and report genomic data in a clinical context. Students will also be equipped to utilise the 100,000 Genomes Project data set if relevant for their research project.


15 Masters level credits

Module attendance required

Teaching delivered one day each week for five consecutive weeks.

Module dates

First iteration - March 2019
Second iteration - June 2019


The module will be assessed via a short presentation, and an exam made up of multiple-choice questions and a choice of essay. For those taking the module as a stand-alone option, you need only take the assessment if you require the University credits.

Academics involved in the delivery of this module 

Module Lead:
Professor Jean-Baptiste Cazier (University of Birmingham Chair of Bioinformatics; Director Designate of the Centre for Computational Biology)

Other University staff teaching:

NHS staff teaching:

  • Dr Samantha Butler

Stand-alone module


This module can be taken as a stand-alone assessed or non-assessed course.   

You should have a good honours degree in a life sciences subject, although we will consider applicants with alternative qualifications and professional experience within the health service or other relevant background. You should either take  (An Introduction to Human Genetics and Genomics) and (Omics Techniques and their Application to Genomic Medicine) first, or be able to show you have equivalent knowledge and understanding to enable you to benefit from this module. 

Please contact the Programme Administrator for further information at