New in emedgene 2.12-2.16 (Oct 18, 2020)
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Automated ACMG/ClinGen CNV classification
The automatically scores sections 1, 2, 3, and partially - sections 4 and 5 of the , 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.
Enhancements to Case Interpretation & Reporting
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.
View lab coverage data by gene list
Simply click the Add Gene List button and select any of your pre-loaded gene lists.
Okta Identity Management
According to a small study we ran (), the tool is highly accurate and saves 75-90% of manual review time. Check out a detailed demo on our .
When on emedgene, you’ve always been able to specify whether the case was confidently solved or not and select the solving variant.
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 .
You’ve always been able to 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.
The emedgene platform now utilizes the 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.
