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[User Story] PON for GMSsolid 15.2 #1474

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mathiasbio opened this issue Aug 15, 2024 · 0 comments · Fixed by #1465
Open
6 tasks

[User Story] PON for GMSsolid 15.2 #1474

mathiasbio opened this issue Aug 15, 2024 · 0 comments · Fixed by #1465
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User-Story A User-Story describing new functionality
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@mathiasbio
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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:

  • Get permission to use.
  • Test it's working properly.
  • Put into production in a new release and validation.

Considered alternatives

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Deviation

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System requirements assessed

  • Yes, I have reviewed the system requirements

Requirements affected by this story

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Risk assessment needed

  • Needed
  • Not needed

Risk assessment

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SOUPs

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Can be closed when

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Blockers

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Anything else?

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@mathiasbio mathiasbio added the User-Story A User-Story describing new functionality label Aug 15, 2024
@mathiasbio mathiasbio added this to the Release 16 milestone Aug 15, 2024
@mathiasbio mathiasbio self-assigned this Aug 15, 2024
@github-project-automation github-project-automation bot moved this to Todo in BALSAMIC Aug 15, 2024
@mathiasbio mathiasbio moved this from Todo to Review in BALSAMIC Aug 15, 2024
@mathiasbio mathiasbio linked a pull request Aug 15, 2024 that will close this issue
72 tasks
@mathiasbio mathiasbio moved this from In Testing to Completed in BALSAMIC Oct 15, 2024
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Labels
User-Story A User-Story describing new functionality
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Status: Completed
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