New release: 1.9.7 (08/06/2026)

We're pleased to introduce GENOVESA 1.9.7, which brings a major expansion in Homologous Recombination Deficiency (HRD) analysis, along with further improvements to variant filtering in line with GATK Best Practices recommendations.

1. New HRD analysis workflow

A new workflow for Homologous Recombination Deficiency (HRD) analysis has been implemented in the system. It has been analytically validated and is available for use with supported and validated sequencing panels.

The workflow automatically evaluates the individual genomic components LOH (Loss of Heterozygosity), LST (Large-scale State Transitions), and TAI (Telomeric Allelic Imbalance), from which the final HRD score is then calculated.

To ensure calculation accuracy and preserve validation parameters, the HRD workflow can only be run on pre-validated sequencing panels.

2. New SOR filter in the Custom Filter

The Custom Filter now supports filtering by the SOR (Strand Odds Ratio) parameter, in line with GATK Best Practices recommendations.

SOR is a robust indicator of strand bias that is less sensitive to the effect of high coverage depth than some traditional metrics. Low values indicate balanced support for a variant on both DNA strands, while higher values may indicate a technical artifact. For most analyses, lower SOR values are recommended — typically up to 3 for SNVs and up to 10 for INDELs.

3. SOR value now shown for variants

The SOR (Strand Odds Ratio) value is now available as a tooltip when hovering over the DP value in the Total DP column. This allows for a quick assessment of strand bias directly in the variant table, without needing to open the variant detail view.

Note: the SOR parameter is not calculated for Split Read (SR) variants and is therefore not displayed for these variants.

We believe this update further expands the possibilities for clinical interpretation and improves the quality of routine genomic data analysis in the GENOVESA system.