Key New features:
Protocols
Protocols are entities within Franklin that describe how specific analyses should be conducted within your organization. They provide a structured framework for tasks that need to be completed. This feature enables you to streamline processes, ensure consistency, and assign tasks to specific users or groups. Want to learn more about how to use them, and effectively manage them? Read our help center article.
Variant Matcher
We are launching a new collaboration between Franklin and Variant Matcher! This allows users to see in Franklin if a variant you are reviewing appears in Variant Matcher and can help you make decisions about the variant based on that information. In addition, you can easily use the link that directs to Variant Matcher to sign in and get information from variant owners.Assay selection in Family Case creation
It is now possible to select the assay that needs to be used for a family case when creating the case manually in the “New Case” UI.
Classification rules changes
Franklin's evidence from ClinVar was expanded to include segregation, de novo, affected cases in dominant or recessive conditions, and functional studies. This will reduce the usage of the PP5 rule and instead will apply the other relevant rules when evidence is available, including PS2, PS3, PS4, PM3, and PP4 rules. For more information, please visit this article.
Franklin is updated with ClinGen's new functional study database and recommendations for BRCA1 and BRCA2. The functional study rules (PS3/BS3) will be based on ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.