Thu, 02/26/2026 - 15:55
A new version, Genomenal 2.12.0, has been released.
Key Changes
- Integrated the GenCC database, providing comprehensive data on gene-disease relationships.
- Implemented filtering for genetic variants and copy number variations (CNV) using MONDO disease ontology terms.
- Enabled direct editing of search condition values for genetic variants within the SNV Viewer table.
Useful Additions
- Added configuration support for BWA-MEM alignment tool parameters.
- For amplicon panel analysis, users can now disable filtering for sequencing artifacts related to strand and orientation bias.
- Alternative polymorphic contigs are now excluded from analysis by default.
- Added processing time statistics for sequenced samples.
Improvements
- Updated the OMIM database to the November 2025 version.
- Significantly accelerated the base quality score recalibration (BQSR) stage.
