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Changing defaults in mitochondria mode for M2 filtering rehaul #5827

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merged 3 commits into from
Mar 25, 2019

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meganshand
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After #5688 we need to adjust some of the default values when in mitochondria mode. I tested these parameters with the mixture samples and it looked good. In particular note that the TLOD divided by depth filter is no longer needed, so the default would now be 0.

Again, would love to get this in before the release on Tuesday (fyi @droazen)

@ldgauthier @davidbenjamin @jsotobroad

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codecov-io commented Mar 22, 2019

Codecov Report

Merging #5827 into master will decrease coverage by <.01%.
The diff coverage is 50%.

Impacted file tree graph

@@             Coverage Diff              @@
##             master    #5827      +/-   ##
============================================
- Coverage     87.04%   87.03%   -0.01%     
+ Complexity    32153    32149       -4     
============================================
  Files          1975     1974       -1     
  Lines        147415   147413       -2     
  Branches      16225    16225              
============================================
- Hits         128315   128307       -8     
- Misses        13185    13188       +3     
- Partials       5915     5918       +3
Impacted Files Coverage Δ Complexity Δ
...e/hellbender/utils/variant/GATKVCFHeaderLines.java 94.91% <ø> (-0.03%) 11 <0> (ø)
...ute/hellbender/utils/variant/GATKVCFConstants.java 75% <ø> (ø) 4 <0> (ø) ⬇️
...lkers/mutect/filtering/Mutect2FilteringEngine.java 97.91% <ø> (-0.03%) 42 <0> (ø)
...r/tools/walkers/mutect/Mutect2IntegrationTest.java 87.56% <ø> (-0.03%) 89 <0> (ø)
.../mutect/filtering/M2FiltersArgumentCollection.java 93.1% <0%> (-6.9%) 6 <4> (+4)
...kers/mutect/clustering/SomaticClusteringModel.java 99.35% <100%> (ø) 65 <1> (ø) ⬇️
...utils/smithwaterman/SmithWatermanIntelAligner.java 50% <0%> (-30%) 1% <0%> (-2%)
...e/hellbender/engine/filters/ReadFilterLibrary.java 94.56% <0%> (-0.95%) 1% <0%> (ø)
...nder/engine/filters/ReadFilterLibraryUnitTest.java 100% <0%> (ø) 59% <0%> (+1%) ⬆️
...ithwaterman/SmithWatermanIntelAlignerUnitTest.java 60% <0%> (ø) 2% <0%> (ø) ⬇️

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@davidbenjamin
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@meganshand This looks good. Do you want to delete the LodOddsOverDepthFilter and remove its threshold from M2FilteringArgumentCollection in this PR as well?

@meganshand
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I'll defer to @ldgauthier on that question: Should we completely delete the lod divided by depth filter now that the new filtering strategy seems to make it obsolete? I've only run with these changes on the mixtures, so I don't have a good sense if this is the kind of thing we'll need in the future or not?

@ldgauthier
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In the latest filtering paradigm, how would somebody who only wanted variants with really high quality bases change the default parameters?

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Once we resolve the filter retention this is good to go. It might be worth noting where the mito priors came from for posterity.

private static final double DEFAULT_LOG_10_PRIOR_OF_INDEL = -7.0;
private static final double DEFAULT_LOG_10_PRIOR_OF_INDEL_FOR_MITO = -3.75;
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These are close-ish to the autosomal priors -- where did they come from?

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Back of the envelope calculation. I'll add a comment.

@davidbenjamin
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In the latest filtering paradigm, how would somebody who only wanted variants with really high quality bases change the default parameters?

You could decrease f-score-beta (default 1.0) to bias the threshold optimization in favor of precision versus sensitivity.

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In the latest filtering paradigm, how would somebody who only wanted variants with really high quality bases change the default parameters?

You could decrease f-score-beta (default 1.0) to bias the threshold optimization in favor of precision versus sensitivity.

Okay. Rip it out.

@meganshand
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@ldgauthier or @davidbenjamin I would appreciate one more quick look now that the lod divided by depth filter has been deleted.

@davidbenjamin
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Still 👍 from me.

@meganshand meganshand merged commit aa8e807 into master Mar 25, 2019
@meganshand meganshand deleted the ms_defaults branch March 25, 2019 13:34
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4 participants