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Clinical Genome Variant Analysis (GENE90025)

Graduate courseworkPoints: 6.25On Campus (Parkville)

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Year of offer2019
Subject levelGraduate coursework
Subject codeGENE90025
Semester 2
FeesSubject 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
Semester 1



Non-allowed subjects


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

  • 250 words
Week 10%

Online Quiz 2

  • 250 words
Week 210%

Written case study assessment

  • 500 words
Week 220%

Written case study assessment

  • 1500 words
During the assessment period60%

Dates & times

  • Semester 2
    Mode of deliveryOn Campus — Parkville
    Contact hours
    Total time commitment85 hours
    Pre teaching requirementsprereading material will be provided on 12th August which is 2 weeks prior to commencment of subject
    Teaching period29 July 2019 to 27 October 2019
    Last self-enrol date 9 August 2019
    Census date31 August 2019
    Last date to withdraw without fail27 September 2019
    Assessment period ends22 November 2019

Further information

  • Texts

    Prescribed texts

    There are no specifically prescribed or recommended texts for this subject.

Last updated: 21 September 2019