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

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Reporting | View reports for past cases even if template has been archived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

Last updated 5 months ago