Medical Genomics
Module title | Medical Genomics |
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Module code | CSC3011 |
Academic year | 2024/5 |
Credits | 15 |
Module staff | Dr Leigh Jackson (Convenor) |
Duration: Term | 1 | 2 | 3 |
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Duration: Weeks | 0 | 12 | 0 |
Number students taking module (anticipated) | 20 |
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Module description
We now live in an age where sequencing and annotating whole genomes is a reality. The key challenge now centres on the accurate and efficient interpretation of this data, so we can improve our understanding and management of human health and disease. In this module we will focus on exploring the advancements that are being made regarding interpretation of this genomic data, with particular emphasis to medical scenarios. You will gain practical hands-on experience of using the data available, learn 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 medical perspective. We aim to make you aware of the technological advancements that are resulting in the increasing use of genomics in various fields of medicine. We aim to teach you how to utilise genome browsers and databases to interpret genetic variation and understand molecular mechanisms of disease. We aim to engage you in scientific discussion with your peers and our world-leading genomics researchers to inspire and educate you as to the promises and challenges in medical genomics.
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 in human health and disease
ILO: Discipline-specific skills
On successfully completing the module you will be able to...
- 6. Analyse genetic data in a systematic way including pre-processing, variant prioritisation, results summary and reporting
- 7. Evaluate approaches to our understanding of genetics with reference to primary literature, reviews and research articles
ILO: Personal and key skills
On successfully completing the module you will be able to...
- 8. Collect and interpret appropriate data, drawing on a range of sources, with limited guidance
- 9. Devise and sustain, with little guidance, a logical and reasoned argument with sound, convincing conclusions
- 10. Communicate effectively arguments, evidence and conclusions using written means in a manner appropriate to the intended audience
- 11. 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:
You will cover a topic across one or two weeks. Each week will start with a case study, video, or research article to be read/watched before the tutorial. . The tutorial will give you the opportunity to explore the issues in depth with the support and input from peers and staff. There will also be a 2-hour workshop every week, where you will learn how to analyse genomic data.
Tutorial topics are likely to include:
- Organisation of the human genome
- Variation in the human genome
- Sequencing for assaying genomic variation
- Non-sequencing-based methods for assaying genetic variation
- Mechanisms of human genetic disease
- Ethical, legal, and societal issues in genetic testing
- Genetic approaches to therapy
Learning activities and teaching methods (given in hours of study time)
Scheduled Learning and Teaching Activities | Guided independent study | Placement / study abroad |
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36 | 114 | 0 |
Details of learning activities and teaching methods
Category | Hours of study time | Description |
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Scheduled Learning & Teaching activities | 12 | 12 x1 hour tutorials. These sessions will be discussion based and intended to give students a greater depth of understanding on each topic to supplement the provided resources |
Scheduled Learning & Teaching activities | 24 | 12 x 2 hour workshops. These workshops will allow students to develop and practice genome analysis skills |
Guided independent study | 114 | Short video content for tutorial sessions. Guided reading of the literature, literature research and revision |
Formative assessment
Form of assessment | Size of the assessment (eg length / duration) | ILOs assessed | Feedback method |
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Online assessment | 1 hour | 1-12 | Written (as requested) |
Summative assessment (% of credit)
Coursework | Written exams | Practical exams |
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60 | 40 | 0 |
Details of summative assessment
Form of assessment | % of credit | Size of the assessment (eg length / duration) | ILOs assessed | Feedback method |
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Essay on an aspect of workshop | 60 | 2000 words | 1-12 | Written |
Short answer question exam (may be online) | 40 | 1 hour | 1-12 | Written (on request) |
Details of re-assessment (where required by referral or deferral)
Original form of assessment | Form of re-assessment | ILOs re-assessed | Timescale for re-assessment |
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Essay on an aspect of workshop (60%) (2000 words) | Essay on an aspect of workshop | 1-12 | August ref/def |
SAQ exam (40%) (may be online), 1 hour | SAQ exam | 1-12 | August ref/def |
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
Strachan T. and Lucassen (2022) Genetics and Genomics in Medicine . CRC Press
Strachan T. and Read A. (2019) Human Molecular Genetics . CRC Press
Indicative learning resources - Web based and electronic resources
UCSC genome browser http://genome.ucsc.edu/
Online Mendelian Inheritance in Man http://www.omim.org/
DECIPHER - https://www.deciphergenomics.org
Credit value | 15 |
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Module ECTS | 7.5 |
Module pre-requisites | CSC2004 Medical Genetics |
Module co-requisites | None |
NQF level (module) | 6 |
Available as distance learning? | No |
Origin date | 01/08/14 |
Last revision date | 22/02/2024 |