Competency information
Details
Identify variation within genetic sequence data captured from various sources.
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 |
|---|---|
| # 2 | Outcome Perform sequence alignment tasks followed by clustering and phylogeny. |
| # 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. |