New Version of Genomenal 2.12.0

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.