Bioinformatics, Interpretation, Statistics and Data Quality Assurance in Genome Analysis

Module overview

This module is concerned with the processes by which the vast quantities of DNA sequence data from next-generation sequencing is analysed and interpreted. You will learn how to align DNA sequences, how to identify variants and to evaluate their pathogenicity, and practice in hands-on practical sessions where you will analyse genomic data (e.g. from the 100,000 Genomes Project). Clinical case studies will relate genomic data back to the patient as the focus and you will learn how to evaluate clinical significance, considering Best Practice Guidelines.


15 Masters level credits

Module attendance required

Teaching delivered one day each week for five consecutive weeks.

Module dates

First iteration - 31 October and 7/14/28 November and 5 December
Second iteration - starts on 12 June for 5 consecutive Mondays


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:
Dr Andrew Beggs

NHS staff teaching:
Dr Yvonne Wallis
Dr Samuel Clokie
Dr Samantha Butler

Interested in taking this individual module as a CPD programme?

This module can be taken as a standalone assessed or non-assessed course.  Costs to be confirmed.  

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 module 1 (An Introduction to Human Genetics and Genomics) and module 2 (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. 

Dr Peter F. Searle
Tel: +44 (0)121 414 4487