Competency information
Details
Use three clinical cases to demonstrate the application of bioinformatic tools to common genetic scenarios.
Considerations
- Application of bioinformatics tools within a clinical genetics service.
- Typical care pathways for patients with a genetic disorder.
- Tools for single-nucleotide polymorphism (SNP) prediction.
- The genome sequence resources available.
- Potentials for errors in SNP prediction methods.
- Validating SNP predictions.
Relevant learning outcomes
# | Outcome |
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# 3 | Outcome Select and apply appropriate bioinformatic tools and resources from a core subset to typical diagnostic laboratory cases, contextualised to the scope and practice of a clinical genetics laboratory. |