Create Gene Descriptions

• A gene description summarizes gene function and its association with diseases.

• It provides context for variant interpretation and often appears before the variant summary in reports.

• Users can create gene descriptions separately from variants in their knowledge base.

Creating Gene Descriptions

• Users can create gene descriptions from scratch or based on external knowledge bases.

• These descriptions automatically apply to all variants within a gene.

• Collaborative editing and approval processes are available. See Manage Assertions for more details.

To create from scratch:

• Go to the Biomarker Details page.

• Click Create New Assertion.

• In the Gene Description tab, specify the gene role (e.g., Oncogene or Tumor Suppressor), provide a summary, and set the approval status.

• Curating gene roles helps with variant interpretation (i.e., providing input for oncogenicity prediction).

From an external knowledge base:

• Navigate to the Biomarker Details page.

• Choose a gene description from an external knowledge base (e.g., CKB).

• Select Copy to new assertion in the menu next to "Report".

• Edit the fields as needed.