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CalculateContamination works much better for very small gene panels #5873

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merged 1 commit into from
Apr 10, 2019

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davidbenjamin
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Closes #5821. @bhanugandham With this PR we will no longer have to recommend against using CalculateContamination for gene panels.

@takutosato This puts in a last-ditch calculation that uses hom ref sites and uses sites that didn't get a clear minor allele fraction segmentation. To avoid distorting the signal with LoH hets, it removes the hom ref sites with the highest allele fraction, which will work unless there's a huge amount of CNV. This will result in a slight underestimate, but for a small gene panel there's not much you can do.

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codecov-io commented Apr 10, 2019

Codecov Report

Merging #5873 into master will increase coverage by 0.089%.
The diff coverage is 50%.

@@               Coverage Diff               @@
##              master     #5873       +/-   ##
===============================================
+ Coverage     86.838%   86.927%   +0.089%     
- Complexity     32274     32928      +654     
===============================================
  Files           1987      1987               
  Lines         149001    150609     +1608     
  Branches       16469     16840      +371     
===============================================
+ Hits          129390    130920     +1530     
- Misses         13598     13637       +39     
- Partials        6013      6052       +39
Impacted Files Coverage Δ Complexity Δ
...pecaller/readthreading/ReadThreadingAssembler.java 68.077% <ø> (ø) 52 <0> (ø) ⬇️
...ools/walkers/contamination/ContaminationModel.java 87.5% <50%> (-4.891%) 39 <9> (ø)
...llbender/engine/spark/SparkCommandLineProgram.java 89.474% <0%> (-3.383%) 7% <0%> (+2%)
...tools/walkers/mutect/SomaticLikelihoodsEngine.java 91.045% <0%> (-1.978%) 31% <0%> (+13%)
...alkers/mutect/SomaticReferenceConfidenceModel.java 95.122% <0%> (-1.753%) 16% <0%> (+8%)
.../broadinstitute/hellbender/utils/QualityUtils.java 84.848% <0%> (-0.517%) 25% <0%> (+11%)
.../mutect/filtering/M2FiltersArgumentCollection.java 94.203% <0%> (-0.392%) 12% <0%> (+6%)
...ller/ReadThreadingAssemblerArgumentCollection.java 96.078% <0%> (-0.075%) 3% <0%> (+1%)
...walkers/mutect/clustering/BetaBinomialCluster.java 100% <0%> (ø) 20% <0%> (+10%) ⬆️
...er/tools/walkers/mutect/Mutect2EngineUnitTest.java 100% <0%> (ø) 10% <0%> (+5%) ⬆️
... and 28 more

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Looks good!

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3 participants