GNA5120 Genome curation
Faculty of Science
GNA5120 Genome curation is a level 5, 12-credit-point, postgraduate unit from the Faculty of Science, offered in 2023 in Semester 1 at Clayton. It has no prerequisites and unlocks 2 units.
- Credit points
- 12
- Offered in 2023
- Semester 1
- Clayton
- Assessment
- No exam
- 5 tasks
This is the 2023 handbook entry. See the 2027 entry.
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Requisites
Before GNA5120
No prerequisites or corequisites besides the enrolment rules below.
After GNA5120
2 units list GNA5120 as a prerequisite or corequisite.
Enrolment rules
COREQUISITES: Must be enrolled in Master of Genome Analytics (or with permission from the unit coordinator)
Overview
The use of genome scale data in clinical applications is rapidly increasing. You will develop expertise in the use of software applications for the calling of genome sequence variants. You will learn how to interpret these variants including examining their presence in population datasets and clinical registries.
You will learn about population stratification and ancestry and how it applies to the interpretation of genome sequences, and the use of genomics in precision medicine.
You will also discuss the ethical issues associated with personal genomes and the requirements for laboratory accreditation, and guidelines for variant classification and reporting.
Offerings in 2023
| Teaching period | Campus | Mode |
|---|---|---|
| First semester | Clayton | On campus |
Assessment
- Ethics assignmentsAssignment16%
- Clinical Framework AnalysisOther6%
- Genome curation toolsOther11%
- Formative case studiesOther17%
- Summative case studiesOther50%
Learning outcomes
When you finish this unit, you should be able to:
- 1
Interpret and classify genetic variants and understand their significance among different populations;
- 2
Outline the current guidelines and accreditation within the genome analysis industry;
- 3
Analyse genome data to identify causative variants using current software and databases;
- 4
Formulate variant reports suitable for clinical use and consistent with guidelines;
- 5
Demonstrate understanding of the ethical issues surrounding genome analysis and datasets and the necessity for informed consent.
Workload and teaching
- Workshops48 hours
- Teaching approachProblem-based learning
- Teaching approachCase-based teaching
- Teaching approachOnline learning
A weekly average of:
- 3 hours of online material/exercises/lessons
- 4 hours of discussion/workshops
- 17 hours of independent study
The online and activity learning will both involve problem-based learning, where you must apply your knowledge to new problems.
You will be presented with patient cases that require genome analytics techniques to be applied. These techniques will first be taught in interactive workshops and then you will apply these techniques to the cases you are provided.
Educational content, exercises and interactive lessons will be provided in the online-learning environment. All lecture material will be provided online so as to ensure face to face time is spent in workshops and active-based learning
Learning resources
Recommended resources
References to relevant training materials in the scientific literature and Moodle lessons to introduce concepts and develop skills.
Contacts
- Unit Coordinators
- Dr Hendrika Duivenvoorden
- Dr Desiree du Sart
- Chief Examiners
- Dr Hendrika Duivenvoorden
Common questions
What are the prerequisites for GNA5120?
GNA5120 has no prerequisites, but enrolment rules apply.
What can I take after GNA5120?
GNA5120 is a prerequisite or corequisite for 2 units, including GNA5920 and GNA5930.
When is GNA5120 offered?
In 2023, GNA5120 runs in Semester 1 at Clayton.
Does GNA5120 have an exam?
No. GNA5120 has 5 assessment tasks and no exam.