Summary of Key New Features

VarSome Premium & API

• LOVD database
  
  

VarSome Clinical

• Sample View displaying all variants and CNVs from the selected sample
• Updated high-performance Region Browser now available by default

1. LOVD database

We are very pleased to be incorporating the first phase of the integration of the Leiden Open Variation Database (LOVD) into VarSome Premium and VarSome API. This high-quality curated database of over 400K variants has been eagerly awaited by many of our users.

VarSome now displays a new component named LOVD with presenting the clinical evidence available for a given variant. 

The LOVD database contains two types of entries:

• Full submissions: data from literature or unpublished research. Includes all patient's relevant variants and additional patient information e.g phenotypes, sex, comments.

• Classification submissions: data includes shared variant classifications from diagnostic centers and consortia or from LOVD curators summary records. These entries do not include patient information.

Licensing

We have been granted a commercial license for LOVD, it is therefore only available in VarSome Premium and VarSome API as a pilot version.

ACMG Integration

LOVD will soon be integrated into the automated ACMG classifier, at which point it will be made available in VarSome Clinical, following testing and validation.

2. Clinical Sample View

A new "Sample View" card has been added to VarSome Clinical. This allows the user to see all variants, including CNVs, that have been identified in the sample.

The browser contains five tracks:

1. Chromosome
2. Conservation scores
3. Transcripts 
4. Small variants in the sample
5. CNVs in the sample

For further information on how to use this new feature please read the Sample View help page.

3. Updated Region Browser

The new high-performance region-browser, previously only available in VarSome, will now become the default in VarSome Clinical too. This browser includes many improvements including a conservation track, as well as negative strand view: 

If for any reason you want to revert back to the legacy browser it is possible to click the link at the top of the browser:

Support

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.