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feat: Release v15.0.0 #1422

Merged
merged 6 commits into from
Apr 10, 2024
Merged

feat: Release v15.0.0 #1422

merged 6 commits into from
Apr 10, 2024

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mathiasbio
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@mathiasbio mathiasbio commented Mar 21, 2024

Description

This is a relatively small update to Balsamic with some significant changes to VarDict filters and settings, which influences all TGA workflows and in particular exome-analyses, as well as a new feature with a custom solution for detecting IGH::DUX4 rearrangements in WGS.

Added

Changed

Removed

Pre-Validation Checklist

Before proceeding with the validation process, ensure that the following tasks have been completed:

  • Install Balsamic in stage and production environments in hasta and build its cache.

    • BALSAMIC was installed on stage after making the BALSAMIC release_v15.0.0 branch, from the instructions given above:
    1. sudo <...>
    2. tmux new -s <...>
    3. Activate stage and conda environments.
    4. pip uninstall balsamic
    5. pip install --no-cache-dir -U git+https://github.com/Clinical-Genomics/BALSAMIC@release_v15.0.0
    6. balsamic init --out-dir <STAGE_PATH> --account <...> --cosmic-key ${COSMIC_KEY} --genome-version hg19 --cache-version 15.0.0 --run-mode local --snakemake-opt "--cores 40" -r
    7. balsamic init --out-dir /home/proj/stage/cancer/balsamic_cache --account development --cosmic-key ${COSMIC_KEY} --genome-version hg38 --cache-version 15.0.0 --run-mode local --snakemake-opt "--cores 8" -r
    8. balsamic init --out-dir /home/proj/stage/cancer/balsamic_cache --account development --cosmic-key ${COSMIC_KEY} --genome-version canfam3 --cache-version 15.0.0 --run-mode local --snakemake-opt "--cores 8" -r
  • Confirm the availability of necessary resources, such as test cases. (Made script to verify this automatically: /home/proj/stage/cancer/validation/scripts/verify_presence_of_test_cases.sh)

  • Review the changelog and ensure all changes and updates are documented:

    Document Sections to Be Updated Pull Request
    Balsamic Documentation Already updated in development PRs NA
    Atlas Documentation List of PONs, add GMSlymphoid7.3 https://github.com/Clinical-Genomics/atlas/pull/2505
  • Set up the stage environment with the necessary software and configurations:

    Software Current Version Pull Request with the Required Updates
    CG v59.17.0 add exome flag to exome samples cg#3061
    target_capture_bed v0.14.25 https://github.com/Clinical-Genomics/target_capture_bed/pull/128

Workflow integrity results

Workflow Integrity Verification Cases

More details here: https://docs.google.com/spreadsheets/d/1p4-oGUs7YDfRjZjqnIHqrC1ryg7C2TOLNpWBDEdwGxA/edit#gid=0

AnalysisType T/TN SequencingType ExpectedQC Status(Pass/Fail) Warnings Warnings observed before (yes / no)
balsamic-qc tumor-only TGA Pass Pass 🟢
balsamic tumor-only WGS Fail (PCT_60X=0.004532) Pass (PCT_60X: 0.00394) 🟢
balsamic tumor-normal WGS Fail (PCT_60X=0.00836) Pass (PCT_60X: 0.006589) 🟢
balsamic tumor-only TGA Pass Pass 🟢
balsamic tumor-normal TGA Pass Pass 🟢
balsamic-umi tumor-only TGA Fail (GC dropout=1.650392) Pass 🟢 GC_DROPOUT: 1.6516 PCT_TARGET_BASES_1000X: 0.861285 yes
balsamic-umi tumor-normal TGA Fail (GC_DROPOUT=1.087173 and RELATEDNESS=-0.524) Pass 🟢 QC metric GC_DROPOUT: 1.00692, QC metric RELATEDNESS: -0.524 GC_DROPOUT: 1.119042 ACC7363A2 yes

Hg38 integrity verifications:

AnalysisType T/TN SequencingType ExpectedQC Status(Pass/Fail)
balsamic tumor-normal WGS should complete without errors FAILED

Put failed case here: validation/15.0.0/failed_integration_tests
Made bug-report here: #1425

Release specific integration verifications:

AnalysisType T/TN SequencingType ExpectedQC Status(Pass/Fail)
balsamic tumor-only WES exome flag argument in config wellsnipe.json file is set to true, and workflow finishes successfully exome flag present and finishes successfully, pass 🟢
  • This section has been verified successfully

Storage, Delivery and Upload Integrity Verifications

Processes Affected in current version Affected workflows
New files to be stored No NA
New files to be delivered No NA
New files to be uploaded to Scout No NA
Changes to Housekeeper IDs No NA
Changes to Scout upload No NA
AnalysisType T/TN Storage status Delivery status Upload status
balsamic-qc tumor-only NA NA NA
balsamic tumor-only NA NA NA
balsamic tumor-normal NA NA NA
balsamic tumor-only NA NA NA
balsamic tumor-normal NA NA NA
balsamic-umi tumor-only NA NA NA
balsamic-umi tumor-normal NA NA NA
  • This section has been verified successfully, or been identified as irrelevant for the current verification

Validation and implementation plan status

Pull-request for validation-report made here:
https://github.com/Clinical-Genomics/validations/pull/177

  • Validation report signed

Pull-request for implementation-plan here:
https://github.com/Clinical-Genomics/validations/pull/178

  • Implementation plan signed

mathiasbio and others added 5 commits February 29, 2024 09:39
#### Added

- high_normal_tumor_af_frac filter in bcftools for TNscope WGS T+N analysis, and UMI T+N analysis which allows for 30% of tumor in the normal.

#### Removed

- alt_allele_in_normal set by TNscope for WGS T+N analysis, and UMI T+N analysis
### Added
- new option for exome samples --exome with modified bcftools filters compared to standard targeted workflow
### Changed
- reduced stringency of targeted none-exome bcftools filters for min MQ
- removed -u flag from VarDict T+N and T only rules
### Removed
- removed -U flag to VarDict T+N rule to start calling SVs in VarDict (required for FLT3)
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codecov bot commented Mar 21, 2024

Codecov Report

All modified and coverable lines are covered by tests ✅

Project coverage is 99.44%. Comparing base (b94831b) to head (28d7e1e).

Additional details and impacted files
@@           Coverage Diff           @@
##           master    #1422   +/-   ##
=======================================
  Coverage   99.44%   99.44%           
=======================================
  Files          40       40           
  Lines        1983     1994   +11     
=======================================
+ Hits         1972     1983   +11     
  Misses         11       11           
Flag Coverage Δ
unittests 99.44% <100.00%> (+<0.01%) ⬆️

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#### Removed

- bcftools filter command keeping only PASS and triallelic-sites as the initial step of quality-filters
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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 mathiasbio marked this pull request as ready for review April 10, 2024 12:26
@mathiasbio mathiasbio requested a review from a team as a code owner April 10, 2024 12:26
@mathiasbio mathiasbio requested a review from ivadym April 10, 2024 12:27
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💯 🥇 Great effort @mathiasbio! Well done ⭐

@mathiasbio mathiasbio merged commit 2d6965b into master Apr 10, 2024
25 checks passed
@mathiasbio mathiasbio deleted the release_v15.0.0 branch April 10, 2024 12:31
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4 participants