Fabric Enterprise 6.11 - Release Notes

Jeanette McCarthy -

On Monday July 19, 2021, Fabric Genomics will release a minor update to Fabric Enterprise. The webapp will be updated from v6.10 to 6.11, customer-facing API will remain at  v1.2.6, and the annotations pipeline will be updated from 6.6.7 to 6.6.8, and the GEM pipeline will be updated from to

This release brings minor updates to the GEM algorithm and report, and addresses several bugs, including those affecting the structural variant viewer.


A summary of key changes to each component are listed below:


Fabric Enterprise Web App & API Updates

Web App version 6.11, API version 1.2.6

GEM version 1.1


  • Improved detection of common pathogenic variants
  • Improved code for ranking structural variants
  • Improved accuracy of disease nomination score
  • Improved discrimination of incidental findings
  • Reduction in sequencing/variant calling artifacts among GEM candidates
  • Increased underlying penetrance estimates resulting in improved specificity of results

Report Improvements

  • Added Clinvar star rating to user interface
  • Color-coded allelic balance deviations
  • Brought OMIM information into a gene drawer within the GEM report
  • Added toggle for including incidental findings or structural variants
  • Added link out to gnomAD and SV viewer in the GEM report
  • Changed which GEM candidates are visible in the report

Structural variant viewer

  • Updated SV Viewer to take into account changes in external data sources (build38)

ACMG scoring

  • Reverted to older view of variant information in scoring module


Annotation Pipeline changes

Pipeline version 6.6.8

  • No data updates

Third-party tool Installations (GRCh37 and GRCh38)

  • No third party tools were installed or updated.

Data Source Updates (GRCh37)

  • No updates

Data Source Updates (GRCh38)

  • No updates 

Bug fixes:

  • None

Known issues:

  • None

Secondary Pipeline

  • No updates
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