Change log pipeline 30

Features

  • Feature | New XAI for CNVs and compound heterozygous SNV-CNV variants

  • Feature | New and more accurate phenotypic match model, Phenomeld

  • Feature | Support for DRAGEN 4.0 with ML for customers running their own DRAGEN and through Emedgene

  • Feature | Lab Page | Gene Coverage - Region coverage statistics will now be calculated based on the case’s kit associated BED file

  • Feature | Default BED files for coding regions, clinical regions (used for exome) and genomes were updated with latest RefSeq Curated and Gencode versions.

  • Feature | Re-including Polyphen annotation, and update to consider most severe value

  • Feature | Support for DRAGEN Force Genotyping caller

Bug Fixes

  • Bug Fix | Quality metrics for duplications when CN > 3

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