Module overview
This module puts genomics into practice, with a focus on the interpretation of genomic data in a clinical context. The module covers the synthesis of genomic information with a focus on the interpretation of variants. To this end the module looks at what evidence is required to state a variant is pathogenic. The module then explores research skills to develop further evidence where this is not already existing. The skills developed in this module will support the development of the research project within the dissertation module.
Aims and Objectives
Learning Outcomes
Learning Outcomes
Having successfully completed this module you will be able to:
- Critically appraise and apply information from literature, databases and bioinformatic tools for the interpretation of genomic variation.
- Apply relevant guidelines for variant classification.
- Develop a research project proposal to address a research question related to genomic interpretation.
- Identify and justify suitable experimental, computational, or clinical research approaches to investigate genetic variants with unknown clinical significance
Syllabus
This module will cover topics including: the integration of genomic information in a clinical context; best practice guidelines for variant interpretation; information sources to support data interpretation, including databases and bioinformatic tools; research approaches to generate new information to support genomic interpretation; development of research questions, hypotheses and research plans.
Learning and Teaching
Teaching and learning methods
The module will comprise teaching, supplemented by online teaching resources.
A variety of learning and teaching methods will be adopted to promote a wide range of skills and meet the differing learning needs of the group.
The teaching will include practical workshops, small group discussions, and specialist lectures given by a range of academics and health care professionals. This will ensure a breadth and depth of perspective, giving a good balance between background theories and principles and practical experience.
Off-site independent learning will be supported through our virtual learning environment, Blackboard.
| Type | Hours |
|---|---|
| Teaching | 30 |
| Assessment tasks | 35 |
| Independent Study | 135 |
| Total study time | 200 |
Resources & Reading list
Journal Articles
Richards, S., Aziz, N., Bale, S. et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 17, pp. 405-423.
Assessment
Assessment strategy
The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. In addition to the summative assessment, during the course of the module there will be opportunities to obtain feedback in the form of unassessed, formative activities. The pass mark for this module is 50%; if you have failed the module, the Board of Examiners may offer you the opportunity to submit further work at the next referral (resit) opportunity. This referral will be the resubmission of the initial work, improved incorporating feedback.Formative
This is how we’ll give you feedback as you are learning. It is not a formal test or exam.
Workshop activities
- Assessment Type: Formative
- Feedback: Verbal discussion and feedback.
- Final Assessment: No
- Group Work: Yes
Presentation
- Assessment Type: Formative
- Feedback: Individual feedback will be provided from module team and peers.
- Final Assessment: No
- Group Work: No
Summative
This is how we’ll formally assess what you have learned in this module.
| Method | Percentage contribution |
|---|---|
| Research Design Proposal | 100% |
Referral
This is how we’ll assess you if you don’t meet the criteria to pass this module.
| Method | Percentage contribution |
|---|---|
| Research Design Proposal | 100% |
Repeat Information
Repeat type: Internal & External