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Release notes

Latest Release News

CVA December 2024 Update - Numbus Increment 1.2 Release

Dear CVA Users, please see below for the features coming in the Numbus 1.2 Increment Relsease

New feature - duplicate proband marking CVA will now diplay when a case has been sequenced more than once. Currently, this feature will display at the top of the case page when the proband of a case has previously been sequenced as the proband of a previous case. You will also see displayed on the case table of the variant page, when a variant has been observed in multiple cases which are the result of re-sequencing

Bug fixes We have fixed a bug which was causing errors in the functionality of the variant consequence type filter. Previously, the consequence types '2kb upstream variant', '2kb downstream variant', and '5 prime UTR variant' were not funcitoning correctly, this hasw now been fixed.

CVA September 2024 Update - Nembus Release

Dear CVA Users, please see below for the features will we be including in our next update - the Nembus release

Improved user experience

  1. We are pleased to provide you with an autocomplete function when you apply the HPO filter in the case page. When you type in a HPO identifier, the application will suggest the closest match.

Bug fixes

  1. We have fixed a bug to resolve discrepancies in the pathogenicity displayed on the variant page and gene page, which sometimes occurred when a new Summary of Findings (SoF) was created without a Reporting Outcomes Questionnaire (RoQ) .

  2. When a variant had no cases reported against it, the "cases with variant" tile appeared blank. We have improved this to display the number '0' for clarity.

  3. We have fixed a bug that resulted in the most severe consequence not displaying for some genes in the variant page. This was mainly for variants with the consequence type "2Kb upstream variant".

Please note, that owing to the upgrade of our front-end software, there will be some stylistic inconsistencies e.g. some of the filter box sizes will vary. Be assured these visual bugs do not affect the CVA content. We will fix these bugs by the end of the up coming quarter.

We hope you appreciate these updates and are always happy to take any feedback or suggestions you may have for us.

Kindest regards,

The CVA Team

CVA August 2024 Update - Mira Increment Release

Dear CVA users

We are pleased to notify you that we are releasing two new filters in CVA.

This includes:

  • Variant Interpretation log (VIL) filter in the Case page, to filter for variants that have an associated VIL.

  • An ACMG filter in the Variant page and when the Case filters are applied, to view the variant classification for the cases selected within a clinical indication.

Although not new, we wanted to highlight the reported variants filter in the Case page, to view variants included in the Reporting Outcomes Questionnaire (ROQ).

We will be releasing these features in the upcoming scheduled NGIS maintenance windows on the following dates:

  • UAT – 31st July to 6th August (Deployment 30th July)

  • Production – from 8th August (Deployment 7th August)

In addition to the above filters, we have included some crucial security patches.

Kindest regards,

The CVA Team

All NGIS Release Notes

NGIS release notes can be found here