Platform Updates VarSome API VarSome Clinical VarSome.com Premium Release

VarSome & VarSome Clinical v.13.1.2

By Carl Smith on February, 27 2025

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Carl Smith

Version 13.1.2 of VarSome and VarSome Clinical was released on 15 March 2025 to address minor performance issues:

  • Users can now modify phenotypic data, including adding phenotypic data to finished analyses
  • Fix of potential failures of multi-sample analyses using existing analyses
  • "Sample metrics" column display has been updated
  • "CNV Gene Lists" can now be launched from the "Action Menu"
  • Refinements were also made to the somatic classifier to address an issue with how Jax CKB determines variant effect that was leading to some variants being incorrectly reported as relevant. We have implemented an overrule to the "Protein Effect" information coming from Jax CKB, whereby if the germline classifier indicates that a variant is Benign or Likely Benign "Protein Effect" data from Jax CKB will not be considered. We have also upgraded Levels Dx2, Dx3, Px2, and Px3 coming from OncoKB to be accounted for as Tier I evidence.

Version 13.1.1 of VarSome and VarSome Clinical was released on 27 February 2025 to address minor display inconsistencies with publication links and optimizing the presentation of variant sample count information.

Version 13.1.0 of VarSome and VarSome Clinical was released on 27 February 2025.

Summary of Key New Features

Updated Databases

Database

old version 

new version 

CPIC

05-Dec-2024

07-Feb-2025

AACT

05-Dec-2024

07-Feb-2025

GWAS

05-Dec-2024

07-Feb-2025

Ensembl

112

113

GenCC

02-May-2024

07-Feb-2025

PanelApp

03-Jun-2024

17-Feb-2025

HPO

06-Sep-2024

07-Feb-2025

HGNC

03-Jun-2024

13-Feb-2025

CKB

16-Dec-2024

23-Feb-2025

OMIM®

16-Dec-2024

19-Feb-2025

LOVD

16-Dec-2024

19-Feb-2025

Mondo

21-Mar-2024

07-Feb-2025

ClinVar

05-Dec-2024

07-Feb-2025

ClinVar CNVs

05-Dec-2024

07-Feb-2025

RefSeq

224

228

ClinGen

 

 

05-Dec-2024

 

 

 

07-Feb-2025

 

ClinGen CNVs

ClinGen Disease Validity

ClinGen Regions

ClinGen Variants

PharmGKB

05-Dec-2024

07-Feb-2025

Cancer Gene Census

v100

v101

Cosmic

v100

v101

DECIPHER

05-Dec-2024

07-Feb-2025

UniProt Regions

04-Oct-2024

07-Feb-2025

UniProt Variants

05-Dec-2024

7-Feb-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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