On Wednesday March 12, 2021, Fabric Genomics released a major update to Fabric Enterprise. The webapp was updated from v6.9 to 6.10, customer-facing API will remain at v1.2.6, and the annotations pipeline will be updated from 6.6.6 to 6.6.7 (there were no updates to the GEM pipeline).
This release brings a major new feature, Gene Cards, addresses several bugs, as well as updates to Clinvar, OMIM and Genomenon.
A summary of key changes to each component are listed below:
Fabric Enterprise Web App & API Updates
Web App version 6.8, API version 1.2.6
- Reformatting of scoring module to use more screen space
- Introduction of Gene Cards (to replace Condition-Genes)
- Separation of b38 vs b37 workspaces (affects gene filters, gene cards, and panels)
- Phevor update (including acknowledgement of failures)
Known Issues:
- SV Viewer: shows different genes affected then stated as overlapped
- SV viewer tracks are empty
- SVs: sorting by flag does not work
- Dismiss Variant functionality not working as expected
Bug fixes:
- Fix fix b38 symbol loading in gene filters
- Custom columns listed first in column sorting
- Error when trying to export variants to be confirmed
- Clicking on Evidence(CV) getting an error "Could not get evidence data value."
- Phevor Ranks Do not Display (but phevor looks like it ran)
Annotation Pipeline changes
Pipeline version 6.6.7
- Update to latest OMIM, Clinvar and Mastermind
Third-party tool Installations (GRCh37 and GRCh38)
- No third party tools were installed or updated.
Data Source Updates (GRCh37)
- ClinVar is now based on the 2021-03-01 release (monthly release),
including OMIM downloaded on 2021-03-17
- MySQL meta info:: 2021-04-01
- Genomenon was updated to version of 2021-04-02
Data Source Updates (GRCh38)
- ClinVar is now based on the 2021-03-01 release (monthly release),
including OMIM downloaded on 2021-03-17
- Mysql meta info: 2021-04-12:
- Genomenon was updated to version of 2021-04-02
Bug fixes:
- None
Known issues:
- none
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