Fabric Enterprise 6.9 - Release Notes

Charlene Son-Rigby -

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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