Test Definitions

Test Definitions allow you to specify default parameters that apply to cases when they are ingested. Make sure you have test components created, then create a test definition as follows.

  1. On the top toolbar, select Configuration.

  2. Select the Test Definitions tab.

  3. Select New.

  4. In the right-hand pane, enter a test name in the Test Name field.

  5. Choose a human reference genome.

  6. [Optional] Select one or more custom annotations (must be compatible for the selected human reference genome).

  7. Choose one or more variant filters. These filters display in the Variants Tab as locked filters.

  8. Choose a report template.

  9. [Optional] Enter version comments as applicable.

  10. [Optional] Select the Turn on Report Automation toggle to enable or disable the automated addition of assertions to reports using this test definition. For more information, refer to Report Automation.

  11. Select Save. The new test definition appears on the left-hand accordion menu. Select a test definition to preview and access the following actions:

    • Select Edit to edit a test definition.

    • Select Copy as New Test to copy the definition as a template for a new test definition.

    • Select Archive to hide the test definition from the PDF report.

Default Tests

Connected Insights provides the following default tests to assist in preliminary test implementation:

Test

Description

Pre-configured GRCh37 Demo Test

GRCh37 test that applies filters for DNA and RNA variants.

Pre-configured GRCh37 DNA Demo Test

GRCh37 test that applies filters for DNA variants.

Pre-configured GRCh37 RNA Demo Test

GRCh37 test that applies filters for RNA variants.

Pre-configured GRCh38 Demo Test

GRCh38 test that applies filters for DNA and RNA variants.

Pre-configured GRCh38 DNA Demo Test

GRCh38 test that applies filters for DNA variants.

Pre-configured GRCh38 RNA Demo Test

GRCh38 test that applies filters for RNA variants.

Pre-configured TSO 500 Demo Test

GRCh37 test that applies filters for DNA and RNA variants (limiting splice variants to AR, MET, EGFR).

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