Change log workbench 2.29

Features:

• Support for interpreting SV insertions, including compound heterozygous

• STR enhancements - new pathogenicity filter, allele frequency added to visualization

• New visualization tracks for ClinVar, ClinVar SV and BigWig

• Emedgene Curate supports CNVs

  • Selectable overlap in related cases

  • Export from Analyze to Curate

• Workflow improvements

  • Gene-related disease card improvement

  • Edit interpretation summary

  • Variant page sidecar redesign

• Analysis table enhancement - when variant has conflicting classifications it will be displayed in black

• DRAGEN QC metrics available for download on lab page

• Input sample file errors exposed in the cases page

• Support for ACMG 78 genes in filter

• Admins can add tags in management page

• Header design change to match Illumina software

Enhancement:

• Added organization setting activity log, viewable from dashboard page on all activity including by ILMN support teams on the backend

• Enable lossless compression on PDF reports (a support request)

• API | Ability to get detailed version information via API calls

• Analysis Tools | Preset Filters | Apply gene list on the fly - validate gene symbols with NCBI ID

Bug fixes:

• mtDNA visualization on GRCh37 bug fixes

• Lab Page | Warning when mtDNA were called on wrong reference and no data is presented

• Curate | SNV variants include alt validation

• Curate | Support Indels and mtDNA

• Var Page | Visualization | Instability issues fixed

• Var Page | Remove related disease for genes of unknown significance

• Var Page | Fix broken OMIM links for genes associated with multiple diseases

• Var Page | STR | Allow selection of existing interpretation paragraph

• Analysis Tools | Fix zygosity other family members

• Analyze | Export to Curate | Fix disease export field