Competency information
Details
Use appropriate bioinformatics analysis of genotyping results.
Considerations
- Awareness of different bioinformatics pipelines available and their limitations
- Identifying sequence variants of unknown significance and how to categorise them following best practice guidelines
- The importance of internal quality control and other quality parameters.
- Targeted versus screening approaches(gene panels vs whole genome analysis)
- The use of appropriate databases and tools
- The principals of data storage, sharing and management.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 6 | Outcome Appreciate the role of ctDNA in diagnosis and monitoring of disease |