GNA5120 · Genome curation

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 scenarios. You will learn about population stratification and ethnic specific variation; how to apply this knowledge to the interpretation of genome sequences, and the use of genomics in precision medicine.

Areas of study: Genetics and Genomics Master of Genome Analytics

Offerings

Assessment

The Handbook does not list a final examination among the assessment items. That is not a guarantee there is none.

Assessment details may change. Please refer to the assessment information in Moodle closer to the start of the teaching period.

Requisites

The Handbook lists no prerequisite, corequisite or prohibition for this unit.

Learning outcomes

1. Interpret and classify genetic variants and understand their significance among different populations;
2. Outline the current international guidelines and accreditation within the genome analysis industry;
3. Analyse genome data to identify causative variants as they relate to patient clinical presentation using current software, databases and published literature;
4. Formulate variant reports suitable for clinical use and consistent with guidelines;

Workload

• 3 hours of online material / exercises / lessons; • 5 hours workshop (split over 2 sessions) and • 16 hours of independent study.

Student experience, not official rules. Nothing here changes what the Handbook says.