Version 12.5.0 of VarSome and VarSome Clinical was released on 3 October 2024.
We have improved the process of identifying variants in the mitochondrial genome for germline single samples. This will allow users to identify variants at different levels of heteroplasmy. 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.
We have updated the Launch Analysis menu in VarSome Clinical to make it easier and clearer to work through the steps required:
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.
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.
Gene lists can now be applied to filter the results of CNV analysis in VarSome Clinical.
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.
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.
Users can now see the number of queries they have performed each month.
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.