Training activity information
Details
Identify and visualise target genomic regions and variation
Type
Entrustable training activity (ETA)
Evidence requirements
Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion.
Reflection at multiple timepoints on the trainee learning journey for this activity.
Considerations
- Best practice guidelines
- Local processes
- Quality of the sequence alignment, variant calls and nomenclature
- Visualising structural re-arrangements, e.g., breakpoints or read pair orientation
- Additional annotations e.g., gnomad, OMIM, cosmic or ClinVar
- Troubleshoot realignments
- Limitations of algorithms
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Select appropriate tools for next generation sequencing (NGS) analysis of inherited and acquired disease. |
| # 4 |
Outcome
Analyse NGS data in a clinical setting applying appropriate quality control and data validation. |