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Improvements to Mutect2's Permutect training data mode #8663

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merged 4 commits into from
Jan 26, 2024

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davidbenjamin
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@davidbenjamin davidbenjamin commented Jan 22, 2024

@LeeTL1220 here are the changes I was talking about. The first commit contains a small change I have been using for a year, the second is the recent multiallelic indel representation bug fix.

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Very minor comments.

public Mutect3DatasetMode mutect3DatasetMode = Mutect3DatasetMode.ILLUMINA;

public enum Mutect3DatasetMode {
ILLUMINA(11),
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I get a little nervous when you hardcode the sequencing technology, especially when given the same value. Why not just make this a default? What is the justification for this? (We do not need to block this PR over this)

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Since Ultima uses unpaired reads it can't be encoded in the same way as Illumina data. It's only a coincidence that the dimension of read tensors is 11 in both cases.

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(And note that this is an Advanced argument)

final Allele longestRef = allRefAlleles.stream().sorted(Comparator.comparingInt(Allele::length).reversed()).findFirst().get();

final List<Allele> remappedAltAlleles = ReferenceConfidenceVariantContextMerger.remapAlleles(vc, longestRef).stream()
.skip(1).toList();
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Nit: Is skip(1) just because we need to skip the reference allele? If so, just add a comment that you are making this assumption.

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done

@davidbenjamin
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@LeeTL1220 Back to you. Note one extra commit setting the default ratio of non-artifact training examples to artifact examples to 1 instead of 20. I checked and this has no effect on the quality of the trained model while vastly decreasing training time.

@davidbenjamin davidbenjamin merged commit 2d50cf8 into master Jan 26, 2024
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@davidbenjamin davidbenjamin deleted the db_permutect_training_data branch January 26, 2024 18:57
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2 participants