Competency information
Details
Identify variation within genetic sequence data captured from various sources.
Considerations
- Application of bioinformatics tools within a clinical genetics
- Typical care pathways for patients with a genetic
- Tools for single-nucleotide polymorphism (SNP)
- The genome sequence resources
- Potentials for errors in SNP prediction
- Validating SNP predictions.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 | Outcome Perform sequence alignment tasks. |
| # 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. |