Competency information
Details
Follow standard protocols or agreed procedures for sequence annotation and analysis.
Considerations
- How to locate and follow local
- How to identify applicable standard protocols for analysis made available through professional genetics
- How to identify standards within the hospital
- Ethical issues associated with patient
- 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. |
| # 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 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. |