Competency information
Details
Follow standard protocols or agreed procedures for sequence annotation and analysis.
Considerations
- How to locate and follow local protocols.
- How to identify applicable standard protocols for analysis made available through professional genetics organisations.
- How to identify standards within the hospital and public health settings.
- Ethical issues associated with patient consent.
- Clinical and information technology (IT) governance rules for analysis of patient data.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Perform analysis on DNA data and protein sequence data to infer function. |
| # 2 | Outcome Perform sequence alignment tasks followed by clustering and phylogeny. |
| # 3 | Outcome Select and apply appropriate bioinformatic tools and resources from a core subset to typical diagnostic laboratory cases, contextualised to the scope and practice of a clinical genetics laboratory. |
| # 4 | Outcome Compare major bioinformatics resources or pathogen typing and identification for clinical diagnostics and how their results can be summarised and integrated with other lines of evidence to produce clinically valid reports. |
| # 5 | Outcome Interpret evidence from bioinformatic tools and resources and integrate this into the sum of genetic information for the interpretation and reporting of test results from patients. |
| # 6 | Outcome Perform the recording of building or version numbers of resources used on a given date, including those of linked data sources, and understand the clinical relevance of this data. |