Fabric Enterprise 6.8 | Pipeline 6.6.6 - Release Notes

Charlene Son-Rigby -

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
Have more questions? Submit a request

Comments