Change log workbench 2.28

Features:

  • Support for interpreting STRs - annotation with 1K genomes and gnomAD, custom visualization, related cases

  • Support for interpreting SV deletions and duplications. ACMG automated classification tool applies to SV del/dups.

  • Emedgene Curate supports gene curation - save and view gene interpretations, save preferred transcripts.

  • Emedgene Curate - new private networking component for opted in laboratories

  • ACMG classification improvements

  • In analysis tools disease column, hover to view see all related diseases

  • New Filter under Variant Effect, Advanced, Curate - select pathogenicity

  • View allele frequency full decimal number

  • Var Page | Quality Tab | Add tooltip for quality parameter threshold

  • Var Page | Option to import variant interpretation summary from Curate

  • Header update - added Illumina logo

Bug fixes:

  • Export variant to Curate bug fix

  • Organization Settings | Management | Fix broken create group and add users link

  • Analysis Tools | Filters | Compound heterozygous filter now supports CNV del/SNV

  • Analysis Tools | Filters | ACMG | VUS renamed Uncertain

  • Reporting | View reports for past cases even if template has been archived

  • API | Fixed error where case type wasn’t saved

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