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Clinical Genome Variant Analysis 2 (GENE90025)
Graduate courseworkPoints: 6.25On Campus (Parkville)
For information about the University’s phased return to campus and in-person activity in Winter and Semester 2, please refer to the on-campus subjects page.
About this subject
- Overview
- Eligibility and requirements
- Assessment
- Dates and times
- Further information
- Timetable(opens in new window)
Contact information
Please refer to the LMS for up-to-date subject information, including assessment and participation requirements, for subjects being offered in 2020.
Overview
Availability | Semester 2 |
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Fees | Look up fees |
Clinical Genome Variant Analysis 2 is designed to broaden and further develop the basic understanding and principles of variant curation taught in Clinical Genome Variant Analysis 1. Application of software and genomic database for collation of evidence for curation will be covered in detail.
The subject will be taught as an intensive, blended (on-line and face-to-face) subject over a 4 week period (2 weeks pre-reading ahead of 2 weeks teaching period).
The subject provides a sound foundation for participation in multidisciplinary clinical discussions on genomic testing and analysis,and would be useful preparatory learning for laboratory scientists and clinical staff training in variant curation.
A background knowledge in genetics and genomics is required, as is completion of Clinical Genome Variant Analysis 1.
Intended learning outcomes
Students will demonstrate an ability to interpret human genomic information in a clinical setting by being able to:
- Demonstrate an ability to interpret human genomic informable to understand and use evidence to classify variants based on guidelines; and
- Demonstrate an ability to interpret human genomic information in a clinical setting by being able to understand and describe how the process of clinical genome variant analysis is integral to generation of a clinical report.
Generic skills
- Describe the bioinformatics pipeline associated with whole exome and genome sequencing and variant curation
- Apply software and genomic databases for collation of evidence
- Understand the principles of variant classification
- Interpret variant curation reports
- Appreciate the role of variant curation and its interpretation within the clinical genetics setting
Last updated: 3 November 2022
Eligibility and requirements
Prerequisites
Successful completion (70% or higher) of GENE90026 Clinical Genome Variant Analysis 1
Corequisites
None
Non-allowed subjects
None
Recommended background knowledge
Understanding of human genetics and genomics in healthcare
Inherent requirements (core participation requirements)
The University of Melbourne is committed to providing students with reasonable adjustments to assessment and participation under the Disability Standards for Education (2005), and the Assessment and Results Policy (MPF1326). Students are expected to meet the core participation requirements for their course. These can be viewed under Entry and Participation Requirements for the course outlines in the Handbook.
Further details on how to seek academic adjustments can be found on the Student Equity and Disability Support website: http://services.unimelb.edu.au/student-equity/home
Last updated: 3 November 2022
Assessment
Due to the impact of COVID-19, assessment may differ from that published in the Handbook. Students are reminded to check the subject assessment requirements published in the subject outline on the LMS
Semester 2
Description | Timing | Percentage |
---|---|---|
Online quiz
| Week 3 | 10% |
Short case studies
| Week 4 | 30% |
Group presentation
| Week 4 | 10% |
Written summary
| Early-mid assessment period | 10% |
Written case study
| End of the assessment period | 40% |
Last updated: 3 November 2022
Dates & times
- Semester 2
Mode of delivery On Campus (Parkville) Contact hours Total time commitment 85 hours Teaching period 3 August 2020 to 1 November 2020 Last self-enrol date 14 August 2020 Census date 21 September 2020 Last date to withdraw without fail 16 October 2020 Assessment period ends 27 November 2020
Last updated: 3 November 2022
Further information
- Texts
Prescribed texts
There are no specifically prescribed or recommended texts for this subject.
Last updated: 3 November 2022