New in emedgene 2.16-2.19 (Dec 7, 2020)

Version 2.19 features improved CNV interpretation capabilities, most notably the ability to add a curated CNV database of chromosomal microarray results. We’ve also enhanced variant visualization, expanded Preset filter capabilities, and added the ability to reflex Case Type up to a broader testing option.

• Add your curated CNV database

You can now upload your own curated CNV database, even using historical microarray data. The data can be accessed through a corresponding filter under the Analysis tools > Variant filters in Advanced mode and in the Clinical Significance section.

• Filter by CNV length

We’ve added a CNV Length filter under the Quality filter to help you filter out small CNVs that are typically noise.

• Improved visualization

We’ve added gene names to visualization tracks. You can also conveniently expand/collapse transcripts through a new control panel on the right. Stay tuned for more visualization tracks coming soon.

• Reflex case type

You can expand to a broader genetic testing option if the results of more targeted testing are inconclusive. You may reflex from Custom Panel to Exome or Genome, or from Exome to Genome.

To do this, you should change the Case type in Edit case info flow, thereby rerunning the broader analysis.

• Preset filters by test type

Everyone’s favorite feature, Preset filters, is getting an upgrade. You can now create different Preset filters for each of your test types. We hope this will streamline analysis and save you lots of time.

• Enhanced reporting

Are you using our slick new customizable reporting module? We now support all test types AND all variant types. Let us know if you’d like a demo.

• Support Help Center

Our live support knowledge base is finally here! If you’re looking for clarifications we’ve loaded answers to our most frequently asked questions, and we will continue to add articles on a weekly basis. You can also conveniently chat with the support team or send us a message.

Support and the new Help Center are accessible at all times via the question mark icon on the platform top bar.