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Version 76.1 updates
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Written by Support
Updated over 4 months ago

Key New features:

Applying ACMG Rules and Classification to Variant Interpretation

We are excited to introduce a new feature that enables the automated classification and ACMG rules to be seamlessly integrated into the variant interpretation process.

Key Highlights:

  • Automated Integration: You can now send the automated classification and ACMG rules directly to the variant interpretation.

  • Editable Classifications: Edits can be made on the ACMG classification screen. Once finalized, simply click "Apply Classification" to automatically select the suggested classification and add the corresponding rules with their strengths.

  • Enhanced Visibility: The ACMG rules will be displayed as part of the classification on the "Organization Assessment" tab.

Case Details - New Case Tab (Beta Feature)

A new tab has been introduced in the case area, providing a full view mode for case details, offering a better overview of the case information. As this feature is in beta, we'd love to hear your feedback! Click here to share your thoughts.

Currently, this feature is available for germline cases only.

Variant Classifications Tags - CNVs Support

Support for Variant Classification Tags has been extended to CNVs, enhancing the detail and customization of variant annotations. Tags can be defined upon request and added from the Variant Classifications Page. These tags will be visible on the Variant Tile, Table, and Org Assessment Tab. Currently, this feature is available for germline cases, including SNVs, indels, and CNVs only.

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