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feat: small updates oncogenic and dux4 #1527

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@mathiasbio mathiasbio commented Feb 6, 2025

Description

This PR adds a couple of small fixes / updates.

Added

  • New ONC annotations from Clinvar

Changed

  • Added GT field to IGH-DUX4 variant

Documentation

  • N/A
  • Updated Balsamic documentation to reflect the changes as needed for this PR.
    • [balsamic_annotations.rst

Tests

Feature Tests

  • Verify that all fields from ONC can be annotated in the VCF

  • ONC

  • ONCDN

  • ONCREVSTAT

  • ONCDISDB

  • ONCCONF

  • Verify that the IGH-DUX4 variant can still be uploaded to Scout from old validation case

See more info in google sheet: https://docs.google.com/spreadsheets/d/1zMTxhPLFD8nVxWSjgtnb8iOmcJm31sX2I8n89nGJ02s/edit?gid=0#gid=0

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]

Panel of Normal specific criteria

User Changes

  • N/A
  • This PR affects the output files or results.
    • User feedback is considered unnecessary because: we're only adding annotation information
    • 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]

Validation criteria

Validation criteria to be added to validation report PR: [LINK-TO-VALIDATION-REPORT-PR from the validations repository]

Version specific criteria

  • Text here or N/A

Important

One of the below checkboxes for validation need to be checked

  • Added version specific validation criteria to validation report
  • Changes validated in standard sections: [validation-section]
  • Validation criteria not necessary

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.
  • Validation criteria
    • Completed the validation criteria section of the template.
  • 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.
  • Validation criteria
    • The author has completed the validation criteria section of the template
  • 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 mathiasbio linked an issue Feb 6, 2025 that may be closed by this pull request
3 tasks
@mathiasbio mathiasbio modified the milestones: Release 16, Release 17 Feb 6, 2025
@mathiasbio mathiasbio changed the base branch from master to develop February 6, 2025 16:00
@mathiasbio mathiasbio changed the title add: small updates oncogenic and dux4 feat: small updates oncogenic and dux4 Feb 6, 2025
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codecov bot commented Feb 6, 2025

Codecov Report

All modified and coverable lines are covered by tests ✅

Project coverage is 99.45%. Comparing base (7d529e6) to head (93ab369).
Report is 45 commits behind head on develop.

Additional details and impacted files
@@             Coverage Diff             @@
##           develop    #1527      +/-   ##
===========================================
- Coverage    99.48%   99.45%   -0.03%     
===========================================
  Files           40       40              
  Lines         1932     2020      +88     
===========================================
+ Hits          1922     2009      +87     
- Misses          10       11       +1     
Flag Coverage Δ
unittests 99.45% <ø> (-0.03%) ⬇️

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@mathiasbio mathiasbio self-assigned this Feb 6, 2025
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