Training activity information
Details
Select one widely used and one as-of-yet unestablished metric used for variant interpretation and explain to Clinical Scientists in Genomics how they are calculated, how to apply them appropriately for clinical use and their limitations
Type
Developmental training activity (DTA)
Evidence requirements
Evidence the activity has been undertaken by the trainee​.
Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.
An action plan to implement learning and/or to address skills or knowledge gaps identified.
Considerations
- Metrics for variant interpretation
- Validation of metrics
- Application in clinical service
- For example:
- Constraint metrics
- Predicted splicing effect scores
- Meta-pathogenicity predictors, e.g., a metric that integrates multiple annotations
- COSMIC signatures
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Apply statistical methods to derive meaningful conclusions from data to support clinical decision making. |
| # 4 |
Outcome
Summarise results of data analysis to stakeholders. |