Platform Updates VarSome API VarSome Clinical VarSome.com Premium Release

VarSome & VarSome Clinical v.12.3.2

By Carl Smith on October, 3 2024

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Carl Smith

Version 12.3.0 of VarSome and VarSome Clinical was released on September 24th, 2024.

Version 12.3.1 of VarSome and VarSome Clinical was released on September 26th, 2024

Version 12.3.2 of VarSome and VarSome Clinical was released on October 3rd, 2024

Summary of Key New Features

Updated Databases

Database

Old Version

New Version

CPIC

05-Aug-2024

06-Sep-2024

AACT

05-Aug-2024

06-Sep-2024

GWAS

05-Aug-2024

06-Sep-2024

HPO

03-Jul-2024

06-Sep-2024

CKB

18-Aug-2024

13-Sep-2024

OMIM®

18-Aug-2024

16-Sep-2024

LOVD

18-Aug-2024

16-Sep-2024

ClinVar

05-Aug-2024

06-Sep-2024

ClinVar CNVs

05-Aug-2024

06-Sep-2024

ClinGen

05-Aug-2024

06-Sep-2024

ClinGen CNVs

05-Aug-2024

06-Sep-2024

ClinGen Disease Validity

05-Aug-2024

06-Sep-2024

ClinGen Regions

05-Aug-2024

06-Sep-2024

ClinGen Variants

03-Jul-2024

06-Sep-2024

GHR

05-Aug-2024

06-Sep-2024

PharmGKB

05-Aug-2024

06-Sep-2024

DECIPHER

05-Aug-2024

06-Sep-2024

PMKB

03-Jul-2024

06-Sep-2024

dbNSFP

4.8

4.9

dbNSFP genes

4.8

4.9


 Version 12.3.1 of VarSome and VarSome Clinical was released on September 26th, 2024.

Summary of Key New Features

  • Fix for single transcript-based lookup API requests
    A discrepancy in how single transcript-based API requests were treated has been resolved. These will now be treated in the same way as batch API requests and will no longer be susceptible to overwriting of acceptance criteria.
  • Minor technical performance improvements

 

Version 12.3.2of VarSome and VarSome Clinical was released on September 26th, 2024.

Summary of Key New Features

  • Fix for annotation of repeat expansion files
    The attribute SVTYPE=DUP, as found in data generated by Oxford Nanopore Technologies, can now be recognized for the annotation of str.vcf files.
  • Minor technical performance improvements

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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