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Medical Genomics

Module description

It is now feasible to sequence the entire genome of an individual in just a few weeks, for less than £1000. A step change in technology has enabled the interrogation of whole genome data on a relatively routine basis for the first time. The interpretation of these genomic data is the focus of this module, with particular emphasis on the application of genomics to medical scenarios. You will gain practical hands-on experience of the data available, how it is generated and how it can be used for patients’ benefit.

This is a core module for students on the BSc Medical Sciences (Human Genomics) pathway.

You should have completed CSC2004 Medical Genetics in order to take this module.

This is an optional module for final year students of BSc Biological Sciences and BSc Medical Sciences. 

Module aims - intentions of the module

This module aims to cover the expanding field of human genomics from a clinical perspective. You will appreciate the technological advances in this field and the wealth of data available and how to handle large ‘omics’ datasets. The module will draw on UEMS world-leading research expertise in genomics, epigenomics and transcriptomics to deliver cutting edge science content. You will gain experience of statistical analysis of large datasets using computer packages such as STATA. Skills in data manipulation and interpretation will be valuable within the genetics field for future employment, but are also easily transferred to other specialties and career paths.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

On successfully completing the module you will be able to...

• 1. Define a genome, and discuss how it is composed and how it evolved
• 2. Compare and contrast technologies for genome sequencing and manipulation
• 3. Evaluate broad strategies for identifying genetic causes of disease
• 4. Access and manipulate publicly available genomic data resources
• 5. Explain in detail the role of coding and non-coding DNA
• 6. Explain in detail the role of epigenetic modifications to the genome

ILO: Discipline-specific skills

On successfully completing the module you will be able to...

• 7. Analyse genetic data in a systematic way including data uploading, data organisation, data pre-processing, data analysis, results summary and data analysis reporting
• 8. Evaluate in detail approaches to our understanding of genetics with reference to primary literature, reviews and research articles
• 9. Analyse in detail essential facts and theory in a subdiscipline of genetics

ILO: Personal and key skills

On successfully completing the module you will be able to...

• 10. Collect and interpret appropriate data, drawing on a range of sources, with limited guidance
• 11. Devise and sustain, with little guidance, a logical and reasoned argument with sound, convincing conclusions
• 12. Communicate effectively arguments, evidence and conclusions using written means in a manner appropriate to the intended audience
• 13. Manage time effectively and work independently

Syllabus plan

Whilst the module’s precise content may vary from year to year, an example of an overall structure is as follows:

Students will cover a new topic each week, with a consolidation week to recap their learning in week 12. A case study or research article will form the focus of each topic. Each week will start with a 1 hour tutorial with an academic expert, for which students will have undertaken some preparative reading and exercises. The tutorial will explore the issues in depth and generate a series of learning objectives for further self-directed learning. There will also be a 1.5 hour practical session or workshop every week, where students will learn how to extract DNA and analyse genomic data in conjunction with larger datasets. The workshops will also provide practical experience and interpretation of publically available genomic data.

Tutorial topics:  

• What is a genome? 
• The mitochondrial genome
• Whole genome sequencing
• The regulatory genome
• The epigenome
• Statistical genetics
• Multifactorial disease Genomics
• Genetic ancestry
• Clinical genomics
• Cancer Genomics
• Future insights

Practical and Workshop Sessions: 

• Extracting DNA/RNA from biological samples
• Whole genome SNP (Single Nucleotide Polymorphism) arrays
• Whole genome sequencing
• PCR amplification e.g. AMY gene for determining sex
• –Analyse of PCR products – gel electrophoresis/fluorescent PCR
• Quality control of SNP genotype data
• Genome Browsers
• Direct to consumer genetic testing

Learning activities and teaching methods (given in hours of study time)

Details of learning activities and teaching methods

Formative assessment

Summative assessment (% of credit)

Details of summative assessment

Details of re-assessment (where required by referral or deferral)

Re-assessment notes

Please refer to the TQA section on Referral/Deferral: http://as.exeter.ac.uk/academic-policy-standards/tqa-manual/aph/consequenceoffailure/

Indicative learning resources - Basic reading

Turnpenny P. and Ellard S. (2012) Emery's Elements of Medical Genetics. Elsevier

Strachan T., Goodship J. and Chinnery P. (2014) Genetics and Genomics in Medicine. Garland Science

Strachan T. and Read A. (2010) Human Molecular Genetics. Garland Science

Pevsner J. (2015) 3^rd edition. Bioinformatics and Functional Genomics. Wiley

Indicative learning resources - Web based and electronic resources

Web based and electronic resources:

UCSC genome browser http://genome.ucsc.edu/

Ensembl genome browser http://www.ensembl.org/index.html

Online Mendelian Inheritance in Man http://www.omim.org/

Key words search

Genomics, Genetics, Epigenetics, Transcriptomics, Bioinformatics