On February 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 6.7.2, to 6.8, customer-facing API remains at 1.2.4, the annotations pipeline updated from 6.6.5 to 6.6.6, and GEM updated from version 00.9.0 to 00.9.2.
This release is a minor update, addressing several bugs and small feature updates. A beta version of pharmacogenomics panels has been introduced as well.
A summary of key changes to each component are listed below:
Fabric Enterprise Web App & API Updates
Web App version 6.8.0, API version 1.2.4
- Beta feature: ability to add pharmacogenomics content (customer-provided) to panels
- Modified API endpoint to include transcript version number (as provided by Ensembl VEP) - requires annotation pipeline 6.6.6
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:
- Corrected API endpoint to verify md5 checksum of uploaded VCF
- Fixed inability to add some GEM-ranked variants to the Interpretation page.
Annotation Pipeline changes
Pipeline version 6.6.6
- The pipeline provides now also phasing information for every variant. The ‘variant_genotype’ column of vmv_base contains now the genotype (GT) and a phasing identifier (PS) as they are given in the original vcf file. (Example phased: GT:1|0,PS:2, unphased: GT:1/1,PS:-).
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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