Competency information
Details
Analyse and interpret the results of next generation sequencing for a panel of genes related to adult onset disorders, e.g. genes associated with breast cancer, Lynch syndrome or cardiomyopathy.
Considerations
- Principles underpinning the technology used including its limitations.
- Principles of different methods for library preparation.
- Principles of different sequencing technologies.
- Quality parameters.
- Basis upon which variants identified in the germline are classified according to their pathology.
- Validation and verification of findings.
- The need for confirmation testing.
- Panels vs whole exome/genome analysis.
- Principles of data storage.
- How to assess the significance of unclassified variants using appropriate bioinformatic tools.
- Use of relevant literature and databases to interpret results.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 4 | Outcome Investigate the clinical significance of variants using a range of bioinformatics tools following current best practice guidelines. |
| # 5 | Outcome Interpret and report the range of genetic and genomic testing relevant to these adult onset genetic and genomic conditions. |