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feat: add artefact database argument #1481

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merged 341 commits into from
Oct 14, 2024

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@mathiasbio mathiasbio commented Sep 30, 2024

Description

Adds argument and filtering of SNVs using a VCF with frequencies exported from a loqusDB instance containing somatic SNV variants called on merged WGS normal samples.

Linked user-story: #1377

Added

  • argument for artefact SNV loqusDB database and associated filter for 0.1 observation frequency (corresponding to 4 observations)

Documentation

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

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

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

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 mathiasbio linked an issue Oct 14, 2024 that may be closed by this pull request
3 tasks
@mathiasbio mathiasbio added this to the Release 16 milestone Oct 14, 2024
@mathiasbio mathiasbio self-assigned this Oct 14, 2024
@mathiasbio mathiasbio marked this pull request as ready for review October 14, 2024 10:49
@mathiasbio mathiasbio requested a review from a team as a code owner October 14, 2024 10:49
Base automatically changed from merge_vardict_tnscope to deduplicate_with_umi October 14, 2024 14:39
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@mathiasbio mathiasbio merged commit 30422d2 into deduplicate_with_umi Oct 14, 2024
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@mathiasbio mathiasbio deleted the add_artefact_database_reference branch October 14, 2024 15:02
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[User Story] Artefact databases for SNVs and InDels
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