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@mathiasbio mathiasbio commented Jul 30, 2025

Description

Minor release update to fix this issue which has unfortunately caused significant problems in production: #1345

Deviation: https://github.com/Clinical-Genomics/Deviations/issues/812

PRs to be merged into this:

VERIFICATION REPORT ISSUE: #1595

Changed

  • changed strand bias filter for WGS TO SNV quality filter to only require representation from both strands in alt allele
  • lowered maximum raredisease loqusdb SNV observation frequency from 0.01 to 0.007, and verified no common cancer predisposition variant exists above that threshold

Documentation

  • N/A
  • Updated Balsamic documentation to reflect the changes as needed for this PR.
    • UPDATED IN PRs

Tests

Feature Tests

  • N/A
  • Tested in PRs and verification report

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 [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]

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: Validated here: Verification Report [v17.1.0] #1595
  • 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 mentioned this pull request Aug 4, 2025
58 tasks
#### Changed

- changed strand bias filter for WGS TO SNV quality filter to only require representation from both strands in alt allele
- lowered maximum raredisease loqusdb SNV observation frequency from 0.01 to 0.007, and verified no common cancer predisposition variant exists above that threshold
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sonarqubecloud bot commented Aug 5, 2025

@mathiasbio mathiasbio marked this pull request as ready for review August 5, 2025 08:28
@mathiasbio mathiasbio requested a review from a team as a code owner August 5, 2025 08:28
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codecov bot commented Aug 5, 2025

Codecov Report

✅ All modified and coverable lines are covered by tests.
✅ Project coverage is 99.40%. Comparing base (1b49253) to head (5974fb2).
⚠️ Report is 1 commits behind head on master.

Additional details and impacted files
@@           Coverage Diff           @@
##           master    #1593   +/-   ##
=======================================
  Coverage   99.40%   99.40%           
=======================================
  Files          40       40           
  Lines        2019     2019           
=======================================
  Hits         2007     2007           
  Misses         12       12           
Flag Coverage Δ
unittests 99.40% <ø> (ø)

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LGTM!

@mathiasbio mathiasbio linked an issue Aug 5, 2025 that may be closed by this pull request
3 tasks
@mathiasbio mathiasbio merged commit f60c5b5 into master Aug 8, 2025
11 of 28 checks passed
@mathiasbio mathiasbio deleted the release_v17.1.0 branch August 8, 2025 08:11
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Successfully merging this pull request may close these issues.

[User Story] Variants with VAF of 1 should not be automatically filtered out

3 participants