The main changes in these releases are: - Dragen v4 for RD - Tumour First / Germline Late - PanelApp Data changes - GRM Update - VIL Improvements - Prioritise variants in known disease associated non-coding genes (non-MT) - Removal of BSVI access from the Interpretation Portal - Some accessibility changes, bug fixes for Cancer DSS and a move of the DSS to a new infrastructure
Please note that all NGIS applications except for Test Ordering will be unavailable in the NGIS production environment during the advised timeframe.
May 1, 202413:00-21:00 BST
DESCRIPTION: Tumor samples failing a non-contractual T>G metric
SUMMARY OF IMPACT: This is a reminder that this incident is still being investigated by Ilumina and please be vigilant when analysing cases . We have been notified by Illumina that a subset of tumour samples have been failing a non-contractual T>G metric and the issue is currently being investigated by Illumina. We have confirmation from Illumina that the issue is not connected to the T>G issue we experienced last year. Any samples with the failed metric have been re-sequenced.
There are 9 cases where T>G fraction is still exceeding cut-off after re-sequencing. We have contacted affected GLHs with a list of samples with any next steps options. Upon inspecting sequencing data in IGV we believe a larger number of cases can be impacted to a lesser degree. We recommend reviewing any reportable variants in IGV to exclude clinical reporting of false positive variants.
Oct 02, 2023 - 09:47 BST
Investigating - SERVICE: NGIS Tumor Samples
SEVERITY: 2
GEL REF: GEL-206086
DESCRIPTION: Tumor samples failing a non-contractual T>G metric
SUMMARY OF IMPACT: We have been notified by Illumina that a subset of tumour samples have been failing a non-contractual T>G metric and the issue is currently being investigated by Illumina. We have confirmation from Illumina that the issue is not connected to the T>G issue we experienced last year.
Any samples with the failed metric have been re-sequenced. There are 8 cases where T>G fraction is still exceeding cut-off after re-sequencing. We have contacted affected GLHs with a list of samples with any next steps options.
Upon inspecting sequencing data in IGV we believe a larger number of cases can be impacted to a lesser degree. We recommend reviewing any reportable variants in IGV to exclude clinical reporting of false positive variants.
Sep 19, 2023 - 09:33 BST
This is a reminder that GEL will be deleting cases from Congenica on a regular basis. The cases that will be marked for deletion will be the ones that have been closed for 2 weeks in the Interpretation Portal, this is regardless of the amount of time that it has been in Congenica. Closed is defined as the report/summary of findings and exit questionnaire being completed by the user.
The next set of deletions will take place on the Thursday, 02 May 2024.
If you wish to keep a case in Congenica, we advise that you inform the Genomics England Service Desk at least 3 days in advance of the 2 week mark for your case. Posted on
Apr 19, 2024 - 11:23 BST
We are pleased to notify you that Mira release to Test Ordering in the NGIS production environment is now complete and the Test Ordering service is now available.
The remaining Mira release changes will be deployed tomorrow, Wednesday, 1 May 2024.
Apr 30, 19:12 BST
In progress -
Scheduled maintenance is currently in progress. We will provide updates as necessary.
Apr 30, 17:00 BST
Scheduled -
Dear all,
We would like to inform you of a planned software release for the Test Ordering Service in the NGIS production environment.
Mira - (NGIS version 1.48.0) will be released on Tuesday, 30 April 2024 from 17:00 (BST) to 22:00 (BST).
The main change in this release is: - PDS (Personal Demographic Service) will replace current Inhealthcare patient look up
Please note that the Test Ordering will be unavailable in the NGIS production environment during the advised timeframe. All other applications in the NGIS production environment will be available.
The remaining Mira release changes will go in on Wednesday, 1 May.
Apr 23, 15:59 BST
Completed -
DD should be inaccessible from the RE now
Apr 29, 10:17 BST
Scheduled -
Dear Researcher,
It has become necessary to discontinue the Data Discovery application earlier than planned. Therefore, it will no longer be available in the Research Environment from Monday, 29 April 2024. We understand this may be disruptive for some researchers, and we apologise for any inconvenience it may cause.
If you are using Data Discovery, please transition to alternative tools. For most use cases, Participant Explorer will provide an excellent alternative.
You can find more information about Participant Explorer in our user guide.
Please contact our Genomics England Service Desk via Service Desk Portal with description ‘Data Discovery EoL' if you are unable to meet your needs with alternative tools.
Update -
We will be undergoing scheduled maintenance during this time.
Apr 29, 07:29 BST
Update -
We will be undergoing scheduled maintenance during this time.
Apr 29, 07:26 BST
Update -
Dear Researcher,
We will be discontinuing the Data Discovery application in the Genomics England Research Environment on Wednesday, 22 May 2024. We understand this may be disruptive for some researchers, and we apologise for any inconvenience it may cause.
If you are currently using Data Discovery, we recommend that you begin transitioning to alternative tools as soon as possible. For most use cases, Participant Explorer will provide an excellent alternative. You can find more information about Participant Explorer in our user guide.
Please contact our Genomics England Service Desk via Service Desk Portal with description ‘Data Discovery EoL'
If this is your first time using the Service Desk Portal, you will need to create an account first. Please remember that your login credentials for the Service Desk Portal are different from those that you use to log into the Research Environment or Research Portal. Our Portal is available 24/7, however please be aware that support hours are Mon-Fri 9am to 5.30pm (excluding Bank Holidays).
Best wishes, Genomics England
Mar 4, 16:19 GMT
Scheduled -
Dear Researcher,
We will be discontinuing the Data Discovery application in the Genomics England Research Environment on Wednesday, 22 May 2024. We understand this may be disruptive for some researchers, and we apologise for any inconvenience it may cause.
If you are currently using Data Discovery, we recommend that you begin transitioning to alternative tools as soon as possible. For most use cases, Participant Explorer will provide an excellent alternative. You can find more information about Participant Explorer in our user guide.
Please contact our Genomics England Service Desk via Service Desk Portal with description ‘Data Discovery EoL'
If this is your first time using the Service Desk Portal, you will need to create an account first. Please remember that your login credentials for the Service Desk Portal are different from those that you use to log into the Research Environment or Research Portal. Our Portal is available 24/7, however please be aware that support hours are Mon-Fri 9am to 5.30pm (excluding Bank Holidays).
Completed -
The scheduled maintenance has been completed.
Apr 25, 13:30 BST
In progress -
Scheduled maintenance is currently in progress. We will provide updates as necessary.
Apr 25, 10:30 BST
Scheduled -
Dear Researcher,
We would like to inform you of a planned maintenance for the upgrade of Labkey which will take place on Thursday, 25 April 2024. The estimated outage will be between 10:30 (BST) to 13:30 (BST).
Jobs calling the Labkey API will be affected during the maintenance window.
We apologise in advance for any inconvenience this may cause you.
Completed -
The scheduled maintenance has been completed.
Apr 19, 11:16 BST
Scheduled -
Dear Congenica User,
This is a reminder that GEL will be deleting cases from Congenica on a regular basis. The cases that will be marked for deletion will be the ones that have been closed for 2 weeks in the Interpretation Portal, this is regardless of the amount of time that it has been in Congenica. Closed is defined as the report/summary of findings and exit questionnaire being completed by the user.
The next set of deletions will take place on the Thursday, 18 April 2024.
If you wish to keep a case in Congenica, we advise that you inform the Genomics England Service Desk at least 3 days in advance of the 2 week mark for your case.
Apr 4, 13:12 BST