MMB8029 : Medical Genomics

  • Offered for Year: 2013/14
  • Module Leader(s): Dr Mauro Santibanez Koref
  • Owning School: FMS Graduate School


Semester 1 Credit Value: 20
ECTS Credits: 10.0


This module aims to:

1. introduce students to DNA, RNA and information processing, and methods used to generate, store and retrieve sequence data

2. provide a brief overview of human genome organisation and variability, focusing on the importance of variability in health and disease

3. introduce students to the analysis of high throughput data using freely available software packages, including the use of techniques designed to identify detrimental mutations in silico

Since the completion of the human genome sequence a decade ago, the development of gene expression and DNA arrays/chips have greatly enhanced our understanding of the relationship between genotype and disease. Furthermore, in the past three years a new generation of sequencing techniques has emerged which has the potential to allow individual genomes to be sequenced for diagnostic purposes. These techniques are transforming human genetics and are likely to have a substantial influence on many areas of medical practice. However, all of these methods generate vast amounts of data which has necessitated the development of novel analytical tools. The aim of this module is enable the students to understand the value and limitations of such techniques, to introduce them to the methods and concepts required to analyse the data produced and, critically, to provide practical experience of analysing datasets generated by a variety of new high throughput methods.

The module is one of three optional modules (the others being Developmental Genetics and Genetics of Common Disease) at least one of which must be taken, along with the Genetic Medicine module, by students wishing to qualify with an MRes in Medical Genetics. The module may also be taken as a single 20 credit component of other MRes strands (subject to timetabling).

Outline Of Syllabus

Through a series of lectures and integrated practicals the module consider:

1. DNA, Replication, DNA repair, RNA, promoters and transcription, epigenetic effects, post transcriptional modification

2. Variability in the human genome. Consequences of DNA variation. Factors influencing sequence variation in the human population

3. Human genome projects, accessing and querying primary and secondary databases, structure and use of genome browsers

4. Microarray technologies, applications principles of data analysis and interpretation

5. Next generation sequencing technologies, applications, principles of data analysis and interpretation

Teaching Methods

Teaching Activities

Category Activity Number Length Student Hours Comment
Scheduled Learning And Teaching ActivitiesLecture141:0014:00Lectures
Guided Independent StudyAssessment preparation and completion150:0050:00Preparing for Examination
Scheduled Learning And Teaching ActivitiesPractical72:0014:00Practicals
Guided Independent StudyProject work130:0030:00Preparation and Production of Practical report for Mini Project
Guided Independent StudyReflective learning activity117:0017:00Additional Reading and Reflective Learning
Guided Independent StudyIndependent study751:0075:00Preparing Notes on Lectures and Practicals and Reading

Teaching Rationale And Relationship

The lectures will be interactive. They will provide the students with the basic knowledge as well as encourage them to explore and question concepts and ideas, and stimulate their capacity to undertake private study. The primary aim of the practical sessions is to familiarise the students with tools currently used for the analysis of sequencing and microarray data. Together with the assignments, these will foster their ability to interpret the results from such analysis, will develop innovative thinking and critical appraisal, as well as their presentation skills.

Assessment Methods

The format of resits will be determined by the Board of Examiners


Description Length Semester When Set Percentage Comment
Written Examination601M50Unseen examination, consisting of a mixture of short and long form questions

Other Assessment

Description Semester When Set Percentage Comment
Prof skill assessmnt1M20Dedicated 2 hour practical based on whole of course
Practical/lab report1M30Practical report, written submission of DNA sequencing analysis (1500 words)

Assessment Rationale And Relationship

The unseen written paper tests the student’s knowledge base, comprehension, and ability to discuss the subject knowledge critically. The practical report tests both the students understanding of gene and genome structure, and the student's ability to apply in silico techniques to the analysis of sequence data. The assessed practical will assess all skills outcomes, with particular emphasis on the analysis of high throughput sequence and microarray datasets. All three assessments test the students written skills.

Reading Lists


Disclaimer: The University will use all reasonable endeavours to deliver modules in accordance with the descriptions set out in this catalogue. Every effort has been made to ensure the accuracy of the information, however, the University reserves the right to introduce changes to the information given including the addition, withdrawal or restructuring of modules if it considers such action to be necessary.