Review Diagnostic Discovery Results¶
Researchers working within the Genomics England Research Environment (RE) may discover new genomic findings that could represent a diagnosis for a participant. If such findings are identified through Genomics England internal R&D work, these will be delivered when appropiate to the NHS GLHs.
This page is designed to outline the process by which users from GLHs should navigate towards closing Diagnostic Discovery cases in the 100k Interpretation Portal after receiving the results from Genomics England. The following video provides an overview of the process that users can follow to update this cases.
- Find and select your case of interest under the 'Reported Cases' tab
- Navigate to the Interpretation Browser
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Locate the reported variant, either:
- Directly if it appears in the interface
- Manually add it using the 'Add variants from VCF' function
Attention
There are some variants that might be more challenging however, including any structural variants or those inappropriately filtered out by the QC filters; these variants may not be extracted even with using the ‘Add variants from VCF’ function. If you have specific cases like this, please do submit a Service Desk ticket, explaining that this relates to a Diagnostic Discovery case via ge-servicedesk@genomicsengland.co.uk, and we will support you individually with those.
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Click 'Create Summary of Findings' to generate a new report against the specific variant you are reviewing and fill the ‘Reporting Outcomes Questionnaire’ to close the case.
Attention
If you require support in inputting Diagnostic Discovery results please submit a Service Desk ticket, explaining that this relates to a Diagnostic Discovery via ge-servicedesk@genomicsengland.co.uk, and we can support in closing them on your behalf.