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As a clinician analysing cases run with GMSsolid 15.2 in balsamic I would like to have less noisy and more likely true CNV calls. Currently there's no PON in place for CNVkit for this panel. This could be added.
As far as I know there has not been many requests for a PON for this panel except in ticket #340275. And as there are samples available it could be built. I have emailed customers to ask for permission to build the PON: https://clinical-scilifelab.supportsystem.com/scp/tickets.php?id=71617
Need
As a clinician analysing cases run with GMSsolid 15.2 in balsamic I would like to have less noisy and more likely true CNV calls. Currently there's no PON in place for CNVkit for this panel. This could be added.
As far as I know there has not been many requests for a PON for this panel except in ticket #340275. And as there are samples available it could be built. I have emailed customers to ask for permission to build the PON: https://clinical-scilifelab.supportsystem.com/scp/tickets.php?id=71617
Suggested approach
Build PON using normals described here: https://clinical-scilifelab.supportsystem.com/scp/tickets.php?id=71617 which has already been done in this PR using the latest UMI consensus approach: #1465
Then:
Considered alternatives
No response
Deviation
No response
System requirements assessed
Requirements affected by this story
No response
Risk assessment needed
Risk assessment
No response
SOUPs
No response
Can be closed when
No response
Blockers
No response
Anything else?
No response
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