Competency information

Details

Document the analysis process to annotate variation data in the context of a specific genetic investigation and use this to develop an enhanced testing strategy.

Considerations

  • 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 patient and/or environmental samples.
  • Gene dossier process.
  • Ethical and governance frameworks.

Relevant learning outcomes

# Outcome
# 2 Outcome Annotate variation data in the context of a specific genetic investigation.