Latest improvements for Ingenuity Variant Analysis

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Ingenuity Variant Analysis (IVA) Fall 2019 Release

Bug fixes, enhanced features and even more content

IVA version 5.6 brings general enhancements to usability and performance. The update includes improvements to the following features:

Bug fix: High Volume Uploader correctly counting samples uploaded

This new release fixes a bug that was incorrectly counting uploaded samples when using the High Volume Uploader. The High Volume Uploader can be accessed by going to (1) My Samples tab > (2) Upload button > (3) Use our high-volume DataStream uploader link:

High volume uploader. From here, one can click and drag vcf files on to the browser screen to upload samples into IVA. Using this method, a user is unable to annotate the uploaded vcf file, unless a datapackage (not a vcf file) is uploaded. More information on the High Volume Uploader can be found here.

 

Successful transfer. When you’ve successfully transferred the vcf file to IVA, you should receive an email notifying you of the successful transfer of your sample.

 

 

Successful validation. You will receive another email once the vcf sample has been validated and is ready for analysis.

 

 

Failed validation. If your uploaded sample failed validation, you will receive the following email notification:

 

 

Correct count of samples uploaded. Refer to your license’s current sample count to check the number of uploads remaining.

 

 

 

Enforcement of analysis consistency between IVA and QCI

In cases where users have access to both IVA and QIAGEN Clinical Insights (QCI), the user will be able to see both IVA- and QCI-uploaded samples and analyses.

IVA analyses table

 

IVA samples table

 

The above can happen in two cases:

1. The IVA user generates an analysis using IVA-uploaded samples, then exports the analysis to QCI. Such samples show up as “IVA and QCI” samples.

2. The QCI user uploads sample(s), then analyzes within QCI. Such samples show up as “QCI” samples.

With this release, users in IVA will not be able to edit the filter cascade of an analysis created via the second use-case (above, QCI-generated analysis). Any attempt to do so will result in the following error alert:

 

This will ensure consistency of filter settings within QCI and IVA for the same analysis. To modify the filter settings of a QCI-created analysis, you must re-create the analysis (clone) of the QCI samples within IVA, then modifying the filter.

Updated gnomAD

In this release, we’ve updated the version of gnomAD to v2.1.1.

Updated content

In this release, we’ve updated the following content:

• HGMD v2019.2
• PGMD v2018.4
• DbSNP v151
• AFC v2019-09-25

To view the latest version of the underlying QIAGEN Knowledge Base, please click on the Content Versions link at the bottom of the page.

For more information about IVA and the Fall 2019 Release, visit our Resources page.