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.