Training activity information
Details
Annotate genomic variation data in the context of inherited and acquired disease
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
- Importance of transcript selection
- Quality and consistency of the data and external sources of information
- Sources for annotation e.g., population databases, splicing prediction tools, in silico prediction tools and critically evaluate their suitability
- HGVS nomenclature
- Storage of data in appropriate formats according to local and national standards, taking into consideration patient confidentiality
- Best practice guidelines
- Implications for the patient
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Explain the structure of the human genome and the impact of variation on human development, health, and disease. |
| # 2 |
Outcome
Evaluate sources of information about variation in the human genome including access, application and clinical impact. |
| # 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. |