New in emedgene 2.12-2.16 (Oct 18, 2020)

• Automated ACMG/ClinGen CNV classification

The ACMG CNVclassification wizard automatically scores sections 1, 2, 3, and partially - sections 4 and 5 of the guidelines, including the full PVS1 calculation needed for intragenic variants. It also summarizes all of the pertinent CNV data in an accessible table.

To view the automated classification, simply tag a variant.

According to a small study we ran (ASHG 2020 abstract), the tool is highly accurate and saves 75-90% of manual review time. Check out a detailed demo on our webinar.

• Enhancements to Case Interpretation & Reporting

When finalizing a case on emedgene, you’ve always been able to specify whether the case was confidently solved or not and select the solving variant.

Now we’ve added three additional fields for case finalization notes - Interpretation Notes, Gene Interpretation and Recommendations. This data is saved per case. If you’re using our brand new customizable and editable reporting solution, the fields will automatically populate in the report.

For finalized cases, you can view the Case Result, Interpretation Notes and Finalized Variants in a new Finalize tab in the righthand panel of the webpage. Alternatively, to see the variants that were selected while signing off the case, select Finalized in the dropdown onthe Candidates tab.

• View lab coverage data by gene list

You’ve always been able to view the insufficient region coverage by gene. This version also allows you to search by any of your gene lists - streamlining quality review for gene lists applied on the fly.

Simply click the Add Gene List button and select any of your pre-loaded gene lists.

• Okta Identity Management

The emedgene platform now utilizes the Okta Identity Management solution to control user access. This improves user management, enhances access and authentication security, and allows organizations to implement single sign-on for their users. Transitioning to Okta is a prerequisite for getting access to version 2.16.