On Monday, Aug 22, 2022, Fabric Genomics will release a minor update to Fabric Enterprise. The webapp will be updated from v6.15.4 to v6.15.5, customer-facing API will change from v1.2.7 to v1.2.16, GEM pipeline version will change from 0.12.2.3 to 0.12.4 and the annotations pipeline will be updated from 6.6.11 to 6.6.12. The secondary pipeline will remain the same as 2.3.1.
This release brings quarterly updates to Fabric’s databases and brings new features listed below.
A summary of key changes to each component are listed below:
Fabric Enterprise Web App & API Updates
- Web App version 6.15.6, API version 1.2.16
Database updates
- OMIM, Genomenon's Mastermind and Clinvar updated for classic, spark and GEM pipelines
GEM updates
- Ability to filter GEM results based on a defined set of genes
CNV Filtering
- Ability to filter CNVs in WGS cases based on gene overlap
Annotation Pipeline changes
- Pipeline version 6.6.12
Third-party tool Installations / Updates (GRCh37 and GRCh38)
- No third party tools were installed or updated.
Data Source Updates (GRCh37 and GRCh38)
- ClinVar is now based on the 2022-07 release (monthly release),
including OMIM downloaded on 2022-07-06 - Genomenon's Mastermind is now based on the 2022-07-22 release
- CG_DB uses now the UMLS version 2021AB-full (released Nov 2021) and ClinVar/Omim data of this release (CG_DB is used only by the CR, not by the annotation pipeline)
Fabric ACE 1.2.1 Pipeline tool Versions
- acmg-automation: 1.2.14
- acmg-genes: 1.2.79
Fabric Secondary Pipeline 2.3.1 tool Version
- Fabric Secondary: 2.3.0
- alignstats: 0.9.1
- bedtools: 2.30.0
- bcftools: 1.12
- cnvkit: 0.9.9
- manta: 1.6.0
- nextflow: 20.10.0
- rtg-tools: 3.12.1
- samtools: 1.12
- sentieon: 202010.04
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