On Monday, May 30, 2022, Fabric Genomics released a minor update to Fabric Enterprise. The webapp was updated from v6.14 to v6.15, customer-facing API was changed from v1.2.6 to v1.2.7, GEM pipeline version was changed from 0.12.2.0 to 0.12.3, the secondary pipeline was updated from 2.3.0 to 2.3.1 and the annotations pipeline was updated from 6.6.10 to 6.6.11.
This release brings no major features. It addresses several minor features and bugs listed below.
A summary of key changes to each component is listed below:
Fabric Enterprise Web App & API Updates
Web App version 6.15, API version 1.2.7
For all customers:
- Filter drawer has been altered to no longer cover the footer that contains variant count
- Gene drawer no longer obscures HPO terms in a clinical case where Phevor has been run
- Ability to filter on multiple case statuses in case queue
- Allelic Balance filter in Test creation now working properly
- Updated the HGMD link out URL
- Change to ACE auto-classification logic: case with any positive variants gets marked auto-positive
- When exporting variants from Clinical report, all report sections are now exportable to csv export file
- For intergenic variants, the autogenerated sentence now includes the chr.
For Secondary customers:
- Users can now determine if an Assay is ready for Secondary
- API endpoint get_secondary_jobs now has a parameter for secondary_analysis_run_id
- Secondary FE QC metrics can now be included in Clinical Reports
For Somatic customers:
- The XML parser has been updated to match a change to Strand OMS XML
- EU App – Fixed tier classifications for somatic variants
Annotation Pipeline changes
Pipeline version 6.6.11
Third-party tool Installations (GRCh37 and GRCh38)
- No third party tools were installed or updated.
Data Source Updates (GRCh37 and GRCh38)
- ClinVar is now based on the 2022-March release (monthly release),
including OMIM downloaded on 2022-3-3
- Genomenon Mastermind is now based on the 2022-4-2 release (quarterly release)