The VarSome team have been busy implementing user feedback over the past few weeks. We are now pleased to bring you the following updates in VarSome 9.3 and VarSome Clinical 9.3 As ever, thank you for the continued feedback and support. We are always eager to hear from you.

VarSome 9.3

Improved Publications & Feedback

Publications linked by users now appear in the main “Publications” display, with the added functionality that you can add comments to these publications. We encourage you to review these changes and become involved in contributing to worldwide genetics research.

Here you can see the publications linked to a particular user with color-coded breakdown of user-classifications and a link through to comments:

When linking a publication, these are the options you will now see allowing you to make it clear if you are one of the authors or to verify via functional study:

Improved Search Index

VarSome 9.3 includes improvements to the search index. As shown below, a search for 'clinvar diabetes "likely pathogenic"' now returns the list of likely pathogenic variants reported in ClinVar and associated with diabetes: 

ACMG Classification

Guided by your feedback, we have made the following updates to our ACMG classifier:

• The explanation for rules PS3 & BS3 are now less verbose.
• Rule PVS1 will no longer trigger on the last base of the 3’ UTR.

• We have fixed a minor issue where user contributions could result in Benign variants being reported as Likely Benign.

AMP Classification

Clinical study names from the Genomic Data Commons are now correctly formatted in upper case.

VarSome Clinical 9.3

Our VarSome Premium and VarSome Clinical users now have additional views and breakdowns in their reports.

We have added CNV coverage to our JBrowse screen:

We have a cleaner references format, based on your feedback, on clinical reports:

ACMG class and AMP tier values have been added into our variant export to Excel:

The Quality Control report now includes additional breakdowns for multi-samples:

VarSome API

To better support our VarSome API users, we have documented guidelines to improve performance and optimise the amount of data returned by the API. Please ask support@varsome.com for details.

Further Information and Support

If you would like to meet us (virtually for now) we will be in attendance at ACMG and exhibiting at AACR later this month. 

Not already a VarSome Premium or VarSome Clinical user? Get in touch and ask for a free trial.

As ever we hope you find these changes & improvements helpful, we’d love to hear any suggestions you may have, support is available as usual from support@varsome.com

- The VarSome Team