On Monday, July 31st, 2023, Fabric Genomics will release a software update to Fabric Enterprise. This release brings only database updates for ClinVar, OMIM and Mastermind, with no new features.
There will be some minor bug fixes listed below.
- The API endpoints to retrieve or update a single variant in a clinical report has been updated to resolve issues with certain variants.
- The affected status of family members is fixed to show correctly in the user interface.
- In certain rare scenarios, the ACMG Mendelian Custom Rubric contained a bug that caused misclassification of the inferred classification during variant scoring. We corrected this issue and have made updates to the ACMG Mendelian Custom Rubric to ensure more accurate inferred classifications based on the ACMG criteria.
This release brings quarterly updates to Fabric’s components as listed below:-
Fabric Enterprise Web App Updates
- Web App version 6.16
Annotation Pipeline Updates
- Pipeline version 6.6.15
Data Source Updates (GRCh37 and GRCh38)
- ClinVar updated on 06/01/23
- OMIM downloaded on 03/08/23
- Mastermind Genomenon is now based on the 04/02/23 release
Fabric Enterprise GEM Updates
- GEM pipeline version 0.12.7
- Clinvar updated on 06/011/23
- OMIM updated to 03/08/23
- Genomenon updated on 04/02/23