Training activity information
Details
Select appropriate tools for identifying different types of genomic variation in inherited disease
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
- For example: SNVs, Indels, CNVs, structural variants, mitochondrial heteroplasmy, mosaicism, sort tandem repeats (STR) and transposable elements in inherited disease
- Quality metrics
- Storage of data in appropriate formats according to local and national standards, taking into consideration patient confidentiality
- Data integrity and patient safety
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 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. |