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
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
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