Gene panels

Create and manage virtual gene panels for targeted variant filtering.

Gene panels let you narrow thousands of genetic variants down to a clinically relevant subset. Create a virtual panel by selecting specific genes, linking disease associations, and applying clinical context.

Why use panels

Genomic datasets contain tens of thousands of variants per sample. Panels let you define a curated gene list — diagnostic panels for known conditions, differential diagnosis panels for multiple hypotheses, carrier screening panels for recessive disorders, or research panels for hypothesis-driven studies.

Viewing existing panels

Navigate to the Variants tab and look for the Virtual Panels filter in the left sidebar. Search your existing panels by name or description.

Creating a new panel

Click New panel to start. Configure the following sections:

Basic information

• Name — A descriptive name for the panel
• Description — Optional description of the panel’s purpose
• Visibility — Private (only you) or Public (shared with your team)

Clinical details

• Clinical intent — Diagnostic, differential diagnosis, confirmatory, carrier screening, or research
• Validation status — Draft (in development), Validated (ready for clinical use), or Deprecated (no longer recommended)
• Inheritance models — Autosomal dominant, autosomal recessive, X-linked, or mitochondrial
• Variant types — SNVs, indels, CNVs, or structural variants

Managing genes

Search for genes by symbol and add them to your panel. Each gene entry shows transcript count and disease associations. Remove genes by clicking the trash icon next to each entry.

Linking diseases

Associate diseases with your panel by searching disease names. Disease links help document the clinical phenotype your panel targets and improve Purna’s ability to contextualize variants.

Using your panel

Apply panels in two ways:

From chat — Ask Purna directly: “Find loss-of-function variants in my cardiomyopathy panel.” Purna retrieves and filters variants accordingly.

From the variant browser — Open the Virtual Panels filter in the Variants tab and select your panel. Purna filters the dataset to show only variants in those genes.

Panel versioning

Your panel maintains a changelog showing when genes were added or removed and who made the change. This audit trail tracks panel evolution and supports clinical decision documentation.

Duplicate an existing panel to quickly create variations — for instance, a narrow diagnostic panel and a broader differential panel for the same condition.