Clinical Genome Variant Analysis 1 (GENE90026)

Clinical Genome Variant Analysis 1 is designed to provide students with an understanding of the basic principles of genome variant analysis. The subject will be taught as an intensive, blended (online and face-to-face) subject.

The syllabus will introduce the bioinformatics pipeline associated with whole exome and genome sequencing and variant interpretation. Principles of variant classification and reporting will also be covered.

The subject is a prerequisite for GENE90025 Clinical Genome Variant Analysis 2. Combined, these subjects provide 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 interpretation. Students must be enrolled in the Master of Genomics and Health or have completed undergraduate subjects in Biology (1^st year or equivalent) and Genetics (2^nd year or equivalent).