On Monday February 7, 2022, Fabric Genomics released a minor update to Fabric Enterprise. The webapp was updated from v6.13 to 6.14, customer-facing API remains at v1.2.6, GEM pipeline version changed from 0.11.13.0 to 0.12.2.0, the secondary pipeline was updated from 2.2.0 to 2.3.0 and the annotations pipeline was updated from 6.6.9 to 6.6.10.
This release brings enhancements to Fabric’s secondary analysis for copy number variants (CNVs) in gene panels and our GEM prioritization algorithm for whole genome/exome (WGS/WES) analysis. It also addresses several usability features and minor bugs.
A summary of key changes to each component are listed below:
Fabric Enterprise Web App & API Updates
Web App version 6.14.3, API version 1.2.6
- Fabric GEM updated from v1.1 to v1.2
- Prioritization of non-protein-changing ClinVar P/LP variants
- Optimization for handling files with Dragen-called SVs in WGS samples, and accurate prioritization of SVs without the need for any upfront filtering
- Improvements to CNV calling using Fabric secondary analysis
- Improved sensitivity for small (1-3 exon) size events
- Improved specificity, reducing phantom SV calls observed previously
- Automated case-level QC for customers using Fabric secondary analysis for panels
- Ability to export data associated with SVs for confirmatory testing
- Ability to export any number of variants from the user interface into a CSV file
- Added timestamps for creation of GEM report to clinical report history
- Enhanced notification for job status of GEM reports
- Enhanced security through termination of sessions when a user changes password
Annotation Pipeline changes
Pipeline version 6.6.10
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 2021-12 release (monthly release),
including OMIM downloaded on 2021-12-02