Spring 2026 🌿 Data and Pipelines
Databases Updates
Our databases and resources have been updated to their latest versions to ensure you have access to the most current information for your analyses.
- ClinVar: version 2026-02
- OMIM: version 26-03-20
- PanelApp Australia and England: version 26-03-20
💡PanelApp version is now included in the Technical Report. - JaxCKB: version 2026-02
- COSMIC: version v103, now including all variants in addition to the COSMIC Mutation Census.
💡Due to significant structural changes in this new version, the update will be applied only to the newest workset versions and will impact short variants only. To avoid any breaking changes to your existing workflows, support for CNVs and fusions using COSMIC v103 will be introduced in upcoming releases, as well as the integration of new COSMIC information. Stay tuned! - STRchive: v2.16.0 (74 disease loci)
Pipelines & Turnaround Time
Multiple under-the-hood optimizations have been made across our pipelines — including the QC step, Family analyses, AluMEI processing, and Sample Frequency computation — resulting in faster analysis turnaround times with no impact on results.- Full filtering transparency for tertiary pipelines: A new
sample_discarded.vcf.gzexport lists every filtered-out variant alongside its exclusion reason. - Sample verification 90%+ faster: Dramatically reduced sample identity and quality checks, cutting what used to be a major bottleneck in the analysis pipeline
- QC optimizations: Reduced processing overhead across all germline pipelines
- WGS Family analysis performance: 3H+ Faster trio and duo processing for GermVar Family workflows
- AluMEI caller improvements: 80% Optimized detection with reduced runtime
- Sample Frequency computation: Accelerated entity-wide frequency calculations