On March 3, 2021, Fabric Genomics released to the US a minor update to Fabric Enterprise (EU will follow shortly after). The web app was updated from version 6.8 to 6.9. The customer-facing API was updated from v1.2.4 to 1.2.5. There were no version updates to , annotations pipeline (6.6.6), or GEM pipeline (00.9.2).
This release is a minor update, addressing several bugs and small feature updates.
A summary of key changes to each component are listed below:
Fabric Enterprise Web App & API Updates
Web App version 6.9.0, API version 1.2.5
- Headers in variant table of Clinical Reporter stay visible when scrolling
- Ability to clone panel tests via API
- Update to ACE usage of BS2 for homozygous allele frequencing in autosomal recessive conditions.
- Optimization to ACE case running times
Known Issues:
- Some b38 symbols cannot be added to gene filters and panels - dialog box is provided to select which (or all desired) synonyms when such symbols are entered.
- SV Viewer: may show different genes affected then stated as overlapped (issue with b38 carry-over)
- Filter option Inheritance Mode for structural variants only shows De novo as an option
Bug fixes:
- Launch GEM trio cases via API with existing genome IDs
- HPO terms now passed during API-based launch of case
- Ability to delete PGx cases
Annotation Pipeline changes
Pipeline version 6.6.6
No changes
Third-party tool Installations / Updates (GRCh37 and GRCh38)
- No third party tools were installed or updated.
Data Source Updates (GRCh37)
- No databases were updated
Data Source Updates (GRCh38)
- No databases were updated
Bug fixes:
- None
Known issues:
- Splice site scores are shown for variants in UTR or intergenic regions
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