Version 13.8.1 of VarSome and VarSome Clinical was released on 7 August 2025.
- Minor bug fix to correctly activate PVS1 in cases where the donor or acceptor site is disrupted.
- A new VarSome Clinical API endpoint is now available to retrieve the QC report in JSON format.
- "predicted_sex" information in the QC report, now loads faster.
- The "#Sample" card now displays the latest analyses.
- "Estimated Copy Number" calculation for CNVs has been corrected.
- Coding coverage report from gene list sub-analyses has been improved.
Version 13.8.0 of VarSome and VarSome Clinical was released on 31 July 2025.
Summary of Key New Features
- 22 updated databases (full list of databases).
- The dbNSFP update introduces new in-silico predictors now available in VarSome Premium: gMVP, VARITY, ESM1b, ClinPred, PHACTboost, and MutPred2.
Updated Databases
|
Database |
Old version |
New version |
|---|---|---|
|
gnomAD structural variants |
30-Jun-2021 |
4.1 |
|
AACT |
07-Jun-2025 |
07-Jul-2025 |
|
GWAS |
07-Jun-2025 |
07-Jul-2025 |
|
CKB |
16-Jun-2025 |
16-Jul-2025 |
|
OMIM® |
16-Jun-2025 |
16-Jul-2025 |
|
LOVD |
16-Jun-2025 |
16-Jul-2025 |
|
OncoKB |
v4.29 |
v4.30 |
|
ClinVar |
07-Jun-2025 |
07-Jul-2025 |
|
ClinVar CNVs |
||
|
ClinGen |
07-Jun-2025
|
07-Jul-2025
|
|
ClinGen CNVs |
||
|
ClinGen Disease Validity |
||
|
ClinGen Regions |
||
|
ClinGen Variants |
07-Jun-2025 |
07-Jul-2025 |
|
GHR |
07-Jun-2025 |
07-Jul-2025 |
|
Cancer Gene Census |
v101 |
v102 |
|
Cosmic |
v101 |
v102 |
|
DECIPHER |
07-Jun-2025 |
07-Jul-2025 |
|
UniProt Regions |
07-May-2025 |
07-Jul-2025 |
|
UniProt Variants |
07-Feb-2025 |
07-Jul-2025 |
|
dbNSFP |
5.1 |
5.2 |
|
dbNSFP genes |
5.1 |
5.2 |
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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