Platform Updates VarSome API VarSome Clinical VarSome.com Premium Release

VarSome & VarSome Clinical v.12.5.1

By Carl Smith on October, 17 2024

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Carl Smith

Version 12.5.0 of VarSome and VarSome Clinical was released on 12 October 2024.

Version 12.5.1 of VarSome and VarSome Clinical was released on 17 October 2024.

Summary of Key New Features

VarSome Clinical

  • Improved mitochondrial variant calling
  • Rearrangements on the VarSome Clinical menu
  • Variant exporting and reporting updates
  • Variant prioritization for trios with VarSome Picks
  • CNV analysis filtering to gene lists 
  • Analysis unarchiving (Only available to accounts not using tokens)

VarSome

  • Users can see how many queries they have submitted to VarSome

New Features

VarSome Clinical

Improved mitochondrial variant calling

We have enhanced our pipeline to improve the detection of low allelic balance mitochondrial variants. This is now available on-demand for testing purposes. If you would like to activate this module, please contact support@varsome.com. This will be fully integrated into germline pipelines, supporting both single and multi-sample analyses, in the coming months for all users.

For more information on how VarSome Clinical identifies mitochondrial variants and how you can apply filters, please visit https://docs.varsome.com/en/mitochondrial-variant-calling.

 

Rearrangements on the VarSome Clinical menu

We have updated the Launch Analysis menu in VarSome Clinical to make it easier and clearer to work through the steps required:Untitled presentation (1) (1)Untitled presentation (2)

 

Variant exporting

The process of variant export has now been split into two components, allowing users to choose which variants should be exported to a clinical report and which to an excel file.

For spreadsheet exporting, users can easily select their variants from the variant table. The selected variants will be highlighted in yellow.

For clinical reports, users can label variants as primary or secondary findings. The variants will then be automatically added to the relevant section of the clinical report.

 

Variant prioritization for trios

Our phenotype-driven variant prioritization algorithm (VarSome Picks) now extends to support family trio analyses.

This algorithm can help users working with family trios in identifying the most likely causative variants related to the proband’s observed phenotypes.

Please be aware that this filter can only be used for family trio analyses conducted from this point onward and cannot be retroactively applied to past analyses.

 

CNV analysis filtering

Gene lists can now be applied to filter the results of CNV analysis in VarSome Clinical. image (17) (1) (1)

The ability to filter genes allows clinicians to focus on genes of interest. This also offers the opportunity to restrict displayed genes to avoid identification of incidental findings.

 

Analysis unarchiving

Users can now unarchive their analyses without the need to contact Support.

Additional charges are applied for unarchiving analyses. This feature is only available to accounts not using tokens.

VarSome

Usage tracking

Users can now see the number of queries they have performed each month.

 

Version 12.5.1 of VarSome and VarSome Clinical was released on 17 October 2024.

Summary of Key New Features

  • Region Browser update of the UniProt Protein Region
    "homo_sapiens proteome sequences" are now hidden from the Region Browser view
  • Improvements to HGVS notation according to the HGVS nomenclature
  • ClinVar Submission improvements on VarSome Clinical
    VarSome Clinical users can now see their ClinVar submitted forms
  • Publications sorting update on the Citations Page
    Users can now sort the publications by ‘Publication Date’
  • Transcript view improvements
    When searching for genes, available transcripts are now displayed with relevant variant location information in the title

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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