Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

feat: use UMIs in TGA workflow #1434

Draft
wants to merge 10 commits into
base: deduplicate_with_umi
Choose a base branch
from

Conversation

mathiasbio
Copy link
Contributor

@mathiasbio mathiasbio commented May 17, 2024

Description

This is an alternative solution to the one implemented here: #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: #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)
    • N/A
    • Verified
  • TGA T/O Workflow
    • N/A
    • Verified
  • TGA T/N Workflow
    • N/A
    • Verified
  • UMI T/O Workflow
    • N/A
    • Verified
  • UMI T/N Workflow
    • N/A
    • Verified
  • WGS T/O Workflow
    • N/A
    • Verified
  • WGS T/N Workflow
    • N/A
    • Verified
  • QC Workflow
    • N/A
    • Verified
  • PON Workflow
    • N/A
    • Verified

Clinical Genomics Stockholm

Documentation

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

User Changes

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

Copy link

sonarcloud bot commented May 17, 2024

Quality Gate Passed Quality Gate passed

Issues
0 New issues
0 Accepted issues

Measures
0 Security Hotspots
No data about Coverage
0.0% Duplication on New Code

See analysis details on SonarCloud

@mathiasbio
Copy link
Contributor Author

This PR might be closed as it seems that applying samtools collate and samtools fixmate may solve the issue with the bamfile produced by Sentieon Dedup consensus used here: #1358 which was the original desired solution

@mathiasbio
Copy link
Contributor Author

This PR is replaced by the original intended solution made here: #1358 and can be closed!

@mathiasbio mathiasbio closed this Jul 8, 2024
@mathiasbio mathiasbio reopened this Aug 14, 2024
@mathiasbio mathiasbio changed the base branch from update_sentieon to deduplicate_with_umi August 14, 2024 10:22
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

1 participant