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feat: remove max af 1 from all workflows #1338

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merged 8 commits into from
Jan 4, 2024
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@mathiasbio mathiasbio commented Dec 5, 2023

This PR:

This change has been made to remove the max allele frequency 1 filter, which has a risk of removing true somatic variants at a very high tumor purity. See issue: #1180

Removed: for now removed features.

  • Removed bcftools command for setting soft-filter with maximum allele-frequency, which eventually leads to a hard removal of these variants.

Tests:

  • All analysis-types completed successfully
  • Few extra variants as a result of removing this filter
sequencing type T/TN case # PASS variants release 13 # PASS variants this PR # additional PASS variants % extra PASS variants
WGS T civilsole 33051 33051 0 0
WGS T firstviper 54072 54072 0 0
WGS TN fleetjay 7189 7190 1 0,01%
TGA T setamoeba 2415 2416 1 0,04%
TGA TN unitedbeagle 1573 1573 0 0
TGA UMI T (TNscope) equalbug 158 158 0 0
TGA UMI T (VarDict) equalbug 70 70 0 0
TGA UMI TN (TNscope) uphippo 124 124 0 0
TGA UMI TN (VarDict) uphippo 105 105 0 0

Note that likely many variants would have been added in the T-only WGS cases if at the same time the T-only WGS specific filter bcftools filter --threads {threads} --include 'FORMAT/ALT_F1R2 > {params.strand_reads[0]} && (FORMAT/ALT_F1R2 > 0 && FORMAT/ALT_F2R1 > {params.strand_reads[0]} && FORMAT/REF_F1R2 > {params.strand_reads[0]} && FORMAT/REF_F2R1 > {params.strand_reads[0]})' --soft-filter '{params.strand_reads[1]}' --mode '+' was also removed. But as this filter also requires that some reads support a reference variant, then removing the MAX_AF 1 filter in this analysis type has no real effect.

I think we can conclude with these stats that it is safe to remove the MAX AF filter.

Review and tests:

  • Tests pass
  • Code review
  • New code is executed and covered by tests, and test approve

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codecov bot commented Dec 5, 2023

Codecov Report

All modified and coverable lines are covered by tests ✅

Comparison is base (f318b1e) 99.44% compared to head (a016076) 99.44%.

Additional details and impacted files
@@                 Coverage Diff                 @@
##           release_v13.0.0    #1338      +/-   ##
===================================================
- Coverage            99.44%   99.44%   -0.01%     
===================================================
  Files                   39       39              
  Lines                 1975     1974       -1     
===================================================
- Hits                  1964     1963       -1     
  Misses                  11       11              
Flag Coverage Δ
unittests 99.44% <ø> (-0.01%) ⬇️

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@mathiasbio mathiasbio marked this pull request as ready for review January 3, 2024 16:15
@mathiasbio mathiasbio requested a review from a team as a code owner January 3, 2024 16:15
@mathiasbio mathiasbio self-assigned this Jan 3, 2024
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@ivadym ivadym left a comment

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Looks good 💯 🎅

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sonarqubecloud bot commented Jan 3, 2024

Quality Gate Passed Quality Gate passed

Kudos, no new issues were introduced!

0 New issues
0 Security Hotspots
No data about Coverage
No data about Duplication

See analysis details on SonarCloud

@mathiasbio mathiasbio merged commit 7397351 into release_v13.0.0 Jan 4, 2024
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@mathiasbio mathiasbio deleted the remove_max_af_1 branch January 4, 2024 08:39
@mathiasbio mathiasbio mentioned this pull request Jan 4, 2024
@mathiasbio mathiasbio changed the title feat: remove max af 1 from all workflows feat: remove max af 1 from TN workflows Jan 9, 2024
@mathiasbio mathiasbio changed the title feat: remove max af 1 from TN workflows feat: remove max af 1 from all workflows Jan 9, 2024
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2 participants