Competency information


Explain how to choose and apply major bioinformatic resources for clinical diagnostics in this disease/service area and how their results are integrated with other lines of evidence to produce clinically valid reports.


  • Identify, acquire and process appropriate genetic data sets for clinical use.
  • The relevance and limitations of data from specific resources to the case(s) of interest, the influence of interfaces on the results and the limitation of methods used to validate data submissions.

Relevant learning outcomes

# Outcome
# 3 Outcome Develop variation data to inform a testing strategy for a specific patient population.
# 4 Outcome Develop an analysis strategy for a new service.