Resources

New Release: 1.8.1 (02/17/2025)

We're thrilled to introduce GENOVESA v1.8.1, packed with exciting new features:

1. Customize columns and their order when exporting variants to Excel – see demo here
   

2. A new dashboard providing an overview of analysis statistics
   

3. Bug fixes and performance optimizations
   

New Release: 1.7.1 (01/20/2025)

We are excited to announce the release of GENOVESA v1.7.1, featuring:

1. Integration with annotation database aggregators (e.g., OncoKB, PubMed).
   

2. A new "Inheritance" column for displaying inheritance types (AD, AR).
   

3. Tooltips added to column names for easier interpretation.
   

4. Detailed quality explanations in the "Var Qual" column.
   

5. Fixed calendar issues on the patient card.
   

6. Replacement of LRG with MANE transcripts in the PDF report.

New Release: 1.7.0 (10/29/2024)

1. The navigation bar has been updated and prepared for a comprehensive variant database and TRIO analysis. The original "PRO" application (FASTGEN, METAGENOMICS, etc.) is now available under APPLICATIONS / Genomics.
   
   

2. The existing CNV analysis, previously available only for download in Excel format, is now integrated into the visualization and variant database in the GENOVESA software. The analysis and columns in the original Excel remain unchanged.
   Note: New tracks and visualizations in the table are only available for newly created projects.
   
   

3. The GENOVESA software is now compatible with AVITI sequencers.

New release: 1.6.1 (9/19/2024)

New prediction scores based on dbNSFP

The Rank score is a value from the dbNSFP database that indicates the likelihood of a variant being pathogenic and ranges from 0 to 1. The higher the Rank score, the more likely it is that the variant has a pathogenic effect.
(dbNSFP: for a given type of prediction/conservation scores, all its scores in dbNSFP were first ranked and the rankscore is the rank divided by the total number of all its scores. Roughly speaking, the rankscore will range from 0 to 1, and the larger the score, the higher rank the score in dbNSFP, therefore the SNP is more likely to have damaging effect).
To view detailed information about the predicted models and their values, click on the button with the prediction.
Please be patient as we continuously improve the selection of the most accurate prediction score for the main grid.