New release: 1.9 (03/09/2026)

This release introduces major enhancements particularly in the areas of CNV workflow, phenotype-driven filtering, gene list management, and reference database updates. The new version is designed to improve interpretation efficiency, provide a clearer user workflow, and better support routine diagnostic practice.

1. Expanded CNV workflow

The new version significantly extends CNV handling, including filtering, classification, commenting, preselection, and sign-out of CNV events. These features simplify interpretation, support systematic variant review, and improve clarity within the diagnostic workflow.

2. Advanced filtering using HPO terms, pseudopanels, and genes

We have expanded filtering options using HPO terms and pseudopanels. At the same time, gene handling has been improved, including more efficient gene adding and searching across filtering, pseudopanels, and HPO-term-based workflows. This enables faster and more precise targeting of clinically relevant findings.

3. Reference database updates and improved search

Internal reference resources have been updated, specifically the gene database according to the latest HGNC 2026/02 release and the HPO term database. The release also includes improved search functionality for more convenient and accurate work during interpretation and phenotype-based filtering.

4. New analytical options for CNV review

For CNV events, we have expanded the set of external database links and information resources to facilitate contextual lookup. In addition, a new copy to clipboard feature enables quick copying of key CNV information, and users can now monitor CNV occurrence frequency within a selected project or workspace.

Planned for the next upcoming release:

• CNV report printing

• CNV export to Excel

The validation protocol for the new GENOVESA version is available here:

Download validation protocol