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.
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.