Training activity information
Details
Produce a functional genomic sequence data file in an appropriate format and perform quality analysis of the sequence data
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
- Relevant file formats e.g., bcl, fastq etc.
- WGS, WES and targeted
- Sequencing technologies, e.g., single-end, paired-end, multiplexed sequencing etc.
- Tools for assessing the quality of the data and the meaning of the quality metrics e.g., number of reads or Q30
- Storing data in appropriate formats according to local and national standards, taking into consideration patient confidentiality
- Data integrity and patient safety
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. |