Cases are your workspace for managing patient genetic data, analyzing variants, and tracking clinical findings. Each case contains genetic variants from VCF files and provides six tabs for structured analysis.
Viewing your cases
Switch to Case Mode using the toggle in the top-right corner to see all your patient cases. Cases are sorted by recent activity. Use the search bar to find a specific case by name, or browse cases in the sidebar.
Creating a case
Click + New Case to open the case creation dialog.
Case details
| Field | Description |
|---|
| Case Name (required) | Identifier for the case (e.g., “Patient_12345”) |
| Case Type | Single Inherited Disease (Family and Somatic coming soon) |
| Consanguinity | Yes, No, or Unknown |
| Sex | Unknown, Male, or Female |
| Date of Birth | Patient DOB for age-related context |
| Ethnicity | Patient ethnicity for allele frequency interpretation |
| Secondary Findings | Opt-in or Opt-out for incidental findings in medically actionable genes |
Case variants
Upload a VCF (Variant Call Format) file by dragging and dropping onto the upload area or clicking Upload VCF. Purna processes the variants and makes them available for analysis across all case tabs.
Patient privacy is critical. Never include identifying information such as patient names, medical record numbers, or contact details when sharing cases or posting comments.
Case tabs
Once a case is open, navigate between six tabs:
| Tab | Purpose |
|---|
| Overview | Dashboard with charts and summary statistics |
| Findings | Curated variants of interest |
| Phenotypes | HPO phenotype management |
| Variants | Full variant browser with filters |
| Access | Team permissions and sharing |
| Settings | Case configuration, files, and audit log |
Access tab
The Access tab controls who can view and edit your case.
Add Team Member — Search and add team members who need access to the case.
Members — Lists current members with their role (Admin or General) and the date access was granted. Use the role dropdown to change permissions or the three-dot menu for additional options.
Activity — Shows the access change history for audit purposes.
Asking questions about a case
From Agent Mode, use the Cases dropdown at the bottom of the chat input to select a case. Once selected, Purna scopes all queries to that patient’s data.
Example queries:
- “What are the likely pathogenic variants in this case?”
- “Do any variants match the patient’s phenotypes?”
- “Summarize the most significant findings”
- “Find variants in the cardiac gene panel with high in silico scores”
Case data loading
Cases load their data on demand. If you haven’t accessed a case recently, Purna retrieves the data when you open it. A loading indicator appears during retrieval. 