Version 13.2.1 of VarSome and VarSome Clinical was released on 15 April 2025 to address minor performance issues:
- Correcting the classification of the Somatic Classifier to be Tier I when OncoKB Level 3A evidence is available
- Somatic classifier documentation has been updated to reflect recent updates
- Performance improvement of liftover jobs by optimizing SQL queries and batch processing
- Mitochondrial variants are no longer falsely called in targeted mode
- Default setting for MANE transcripts has been adjusted to prioritize RefSeq over Ensembl
- Fixed parameters issue related to input files when using GATK commands
- Fixed the failure in multi-sample analysis due to missing BAM files and unexpected heteroplasmy analysis
- Corrected sample counts in the sample tab for certain variants
- Cohort analysis with phenotypes is now only clickable only after the analysis has finished
- Missing environment variables no longer result in failed classifications
- Files uploaded from Illumina BaseSpace are no longer duplicated
- Refined information input and billing entry management
- Adjusted display size of documents in the Billing tab
Version 13.2.0 of VarSome and VarSome Clinical was released on 27 March 2025.
Summary of Key New Features
- 18 updated databases (full list of databases)
Updated Databases
Database |
Old version |
New version |
---|---|---|
CPIC |
07-Feb-2025 |
07-Mar-2025 |
AACT |
07-Feb-2025 |
07-Mar-2025 |
GWAS |
07-Feb-2025 |
07-Mar-2025 |
CKB |
23-Feb-2025 |
19-Mar-2025 |
OMIM® |
19-Feb-2025 |
19-Mar-2025 |
LOVD |
19-Feb-2025 |
19-Mar-2025 |
ClinVar |
07-Feb-2025 |
07-Mar-2025 |
ClinVar CNVs |
07-Feb-2025 |
07-Mar-2025 |
CGD |
03-Jul-2024 |
07-Mar-2025 |
ClinGen |
07-Feb-2025 |
07-Mar-2025 |
ClinGen CNVs |
07-Feb-2025 |
07-Mar-2025 |
ClinGen Disease Validity |
07-Feb-2025 |
07-Mar-2025 |
ClinGen Regions |
07-Feb-2025 |
07-Mar-2025 |
ClinGen Variants |
07-Feb-2025 |
07-Mar-2025 |
GTEx |
v8 |
v10 |
GHR |
07-Feb-2025 |
07-Mar-2025 |
PharmGKB |
07-Feb-2025 |
07-Mar-2025 |
DECIPHER |
07-Feb-2025 |
07-Mar-2025 |
Support
We hope you find these improvements helpful. We would love to hear any feedback and suggestions you may have. Support is available as usual from support@varsome.com.
The VarSome Team.
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