|Year of offer||2019|
|Subject level||Graduate coursework|
|Fees||Subject EFTSL, Level, Discipline & Census Date|
Clinical Genomic Variant Analysis is designed to provide students with an understanding of genome variant analysis. It will be taught as an intensive, blended (on-line and face-to-face) subject over a two-week period,
The syllabus will provide an introduction to the bioinformatics pipeline associated with whole exome and genome sequencing and variant curation. Application of software and genomic databases for collation of evidence for curation will be covered in detail, with on-line content reinforced with tutorial exercises. Principles of variant classification and reporting will also be covered.
This subject provides a sound foundation for participation in multidisciplinary clinical discussions on genomic testing and analysis, and would be a useful introduction for laboratory scientists and clinical staff training in variant curation. A background knowledge in genetics and genomics is required.
Intended learning outcomes
Students will demonstrate an ability to interpret human genomic information in a clinical setting by being able to:
- Explain the role and limitations of panel, exome and genome testing in routine clinical care
- Discuss the importance of phenotyping for development of gene lists
- Use evidence from population variant databases, in-silico software, genetic databases, and scientific literature to classify variants based on guidelines
- Apply genomic report findings in a clinical setting
Eligibility and requirements
|Code||Name||Teaching period||Credit Points|
|GENE90001||Human Genetics & Genomics in Healthcare||
Recommended background knowledge
Understanding of human genetics and genomics in healthcare
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
Online Quiz 1
Online Quiz 2
Written case study assessment
Written case study assessment
|During the assessment period||60%|
Dates & times
- Semester 2
Mode of delivery On Campus — Parkville Contact hours Total time commitment 85 hours Pre teaching requirements prereading material will be provided on 12th August which is 2 weeks prior to commencment of subject Teaching period 29 July 2019 to 27 October 2019 Last self-enrol date 9 August 2019 Census date 31 August 2019 Last date to withdraw without fail 27 September 2019 Assessment period ends 22 November 2019
There are no specifically prescribed or recommended texts for this subject.