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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
Last updated: 2 November 2019