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feat: use UMIs in TGA workflow

Open mathiasbio opened this issue 1 month ago • 1 comments

Description

This is an alternative solution to the one implemented here: https://github.com/Clinical-Genomics/BALSAMIC/pull/1358

And it aims to introduce the same feature but with different approaches. The previous approach tried to make use of the new features in Dedup introduced in the later versions of Sentieon, however as described here there's a bug in the software which makes us unable to use the bamfile in Picard (and maybe other tools) downstream: https://github.com/Clinical-Genomics/BALSAMIC/issues/1361

As a different approach this one using the regular UMI workflow tools instead and which seems to be working.

Added

  • [Description]

Changed

  • [Description]

Fixed

  • [Description]

Removed

  • [Description]

Documentation

  • [ ] N/A
  • [ ] Updated Balsamic documentation to reflect the changes as needed for this PR.
    • [Document Name]

Tests

Feature Tests

  • [ ] N/A
  • [ ] Test [Description]
    • [Screenshot]

Pipeline Integrity Tests

  • Report deliver (generation of the .hk file)
    • [x] N/A
    • [ ] Verified
  • TGA T/O Workflow
    • [x] N/A
    • [ ] Verified
  • TGA T/N Workflow
    • [x] N/A
    • [ ] Verified
  • UMI T/O Workflow
    • [x] N/A
    • [ ] Verified
  • UMI T/N Workflow
    • [x] N/A
    • [ ] Verified
  • WGS T/O Workflow
    • [x] N/A
    • [ ] Verified
  • WGS T/N Workflow
    • [x] N/A
    • [ ] Verified
  • QC Workflow
    • [x] N/A
    • [ ] Verified
  • PON Workflow
    • [x] N/A
    • [ ] Verified

Clinical Genomics Stockholm

Documentation

  • Atlas documentation
    • [x] N/A
    • [ ] Updated: [Link]
  • Web portal for Clinical Genomics
    • [x] N/A
    • [ ] Updated: [Link]

User Changes

  • [x] N/A
  • [ ] This PR affects the output files or results.
    • [ ] User feedback is considered unnecessary because [Justification].
    • [ ] Affected users have been included in the development process and given a chance to provide feedback.

Infrastructure Changes

  • Stored files in Housekeeper
    • [x] N/A
    • [ ] Updated: [Link]
  • CG (CLI and delivered/uploaded files)
    • [x] N/A
    • [ ] Updated: [Link]
  • Servers (configuration files on Hasta)
    • [x] N/A
    • [ ] Updated: [Link]
  • Scout interface
    • [x] N/A
    • [ ] Updated: [Link]

Checklist

[!IMPORTANT]
Ensure that all checkboxes below are ticked before merging.

For Developers

  • PR Description
    • [ ] Provided a comprehensive description of the PR.
    • [ ] Linked relevant user stories or issues to the PR.
  • Documentation
    • [ ] Verified and updated documentation if necessary.
  • Tests
    • [ ] Described and tested the functionality addressed in the PR.
    • [ ] Ensured integration of the new code with existing workflows.
    • [ ] Confirmed that meaningful unit tests were added for the changes introduced.
    • [ ] Checked that the PR has successfully passed all relevant code smells and coverage checks.
  • Review
    • [ ] Addressed and resolved all the feedback provided during the code review process.
    • [ ] Obtained final approval from designated reviewers.

For Reviewers

  • Code
    • [ ] Code implements the intended features or fixes the reported issue.
    • [ ] Code follows the project's coding standards and style guide.
  • Documentation
    • [ ] Pipeline changes are well-documented in the CHANGELOG and relevant documentation.
  • Tests
    • [ ] The author provided a description of their manual testing, including consideration of edge cases and boundary conditions where applicable, with satisfactory results.
  • Review
    • [ ] Confirmed that the developer has addressed all the comments during the code review.

mathiasbio avatar May 17 '24 09:05 mathiasbio