Summary of Key New Features for 11.18.0

VarSome improvements

• AlphaMissense
• VarSome Publications
• Region Browser legacy view

VarSome Clinical improvements

• ACMG Actionable Genes filter
• Include variant and gene comments in the clinical reports

VarSome

AlphaMissense

We have integrated AlphaMissense predictions. AlphaMissense is an AI-based model developed by Google DeepMind designed to predict the pathogenicity of missense mutations in human DNA. 

The AlphaMissense scores are now accessible under the 'In-Silico Predictors' section. Please be aware that these scores have not been integrated into the germline classification process, so they will not affect the classification outcomes.

VarSome's germline classification adheres to ClinGen's recommendation for the clinical use of the PP3/BP4 criteria, utilizing one predictive engine at a time. Following a thorough calibration process, we determined that AlphaMissense does not outperform MetaRNN for missense variants. Consequently, MetaRNN remains the chosen predictive tool in the VarSome’s classifier.

For more details and to review the calibration results, please click here. 

VarSome Publications

Our latest updates to the VarSome platform bring significant enhancements to our publication retrieval system, designed to optimize the way you access large volumes of scientific publications related to variants and genes. VarSome Publications component now gathers and lists publications more effectively at both the variant and gene levels ensuring a quick access to the most relevant scientific literature. It comes with an intelligent tagging that identifies and highlights key terms within publications, such as disease terms, drug names, and species. These tags facilitate easy categorization and retrieval of information. Finally, we have made minor yet impactful changes to the user interface that enhance the overall user experience, making it more intuitive and user-friendly.

Region Browser

The old version of the Region Browser, accessible via 'Back to legacy view',  is no longer maintained. For a better experience, please switch to the new Region Browser version if you haven't already.

VarSome Clinical enhancements 

ACMG actionable genes filter

A new version of this filter is now available. This filter now uses the latest version (3.2) of the ACMG list for reporting secondary findings in clinical exome and genome sequencing. You can include this in your workflow to streamline the process of detecting secondary findings in your samples. 

Include variant and gene comments in the clinical reports

You can now add comments to variants and genes and choose to include them in clinical reports. Once a comment is added, it will automatically appear in the clinical report each time the variant is included.

Support

As ever we hope you find these changes and 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.