Platform Updates VarSome API VarSome Clinical VarSome.com Premium Release

VarSome & VarSome Clinical v.13.2.1

By Carl Smith on April, 15 2025

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Carl Smith

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

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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