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More refactoring PDHCE and preparing for joint detection #8467
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…ed events, not other events at the same locus
…, some unit tests need attention
Github actions tests reported job failures from actions build 5826613584
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#carrot(HaplotypeCaller CARROT Regression Tests, VariantCallingCarrotOrchestrated.gatk_docker, ) |
🥕CARROT🥕 run startedTest: HaplotypeCaller CARROT Regression Tests | Status: buildingRun: HaplotypeCaller CARROT Regression Tests_run_2023-08-21 22:38:12.285896770 UTC Full details
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|
🥕CARROT🥕 run finishedTest: HaplotypeCaller CARROT Regression Tests | Status: succeededRun: HaplotypeCaller CARROT Regression Tests_run_2023-08-21 22:38:12.285896770 UTC Results
Full details
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|
🥕CARROT🥕 report map stub finishedfor test HaplotypeCaller CARROT Regression Tests (run: 83db9528-9aa0-4963-a382-95c0dc24102d)
|
Github actions tests reported job failures from actions build 5941400999
|
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I tried to dig into this closely... A lot of documentation/name/clarifying comments and a few meaty comments about potential behavior oversights/changes.... I do think that if we do not have coverage for the "determinePDHaps" codepath we must make coverage and test it because thats the most potentially changed and messy part of the code that does not mesh well at all with the flipped implementation of event groups...
src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java
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src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java
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src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java
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There are several nested loops here: | ||
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Layer 1: iterate over all determined event positions | ||
Layer 2: iterate over all alleles at that position, including the reference allele unless we are making determined haplotypes, to set as |
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confusing wording
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I think it's better now.
.../hellbender/tools/walkers/haplotypecaller/PartiallyDeterminedHaplotypeComputationEngine.java
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sourceSet.setPartiallyDeterminedMode(); | ||
} | ||
Utils.printIf(debug, () -> "Returning "+outputHaplotypes.size()+" to the HMM"); | ||
sourceSet.setPartiallyDeterminedMode(!pileupArgs.determinePDHaps); |
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add a comment that this is necessary to flag later PDHMM genotyping (and that we want to set it at the end here because the above code might fail out and thus this is a bell weather)
* Partition events into clusters that must be considered together, either because they overlap or because they belong to the | ||
* same mutually exclusive pair or trio. To find this clustering we calculate the connected components of an undirected graph | ||
* with an edge connecting events that overlap or are mutually excluded. | ||
* Partition events into the largest possible clusters such that events in distinct clusters are mutually compatible |
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I'm not sure this description covers that in the average case you are ending up with a bunch of singleton event groups... you could say the maximum nubmer of clusters such that.... but also I would maybe spell out the consequences of this? Maybe even with an example with an external SNP - A and a Del + SNP that overlap showing that this would give you two event groups?
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I would make a note for posterity here or elsewhere that this is a significant divergence from the dagen code.
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I added a note about the common case where all events are compatible and singleton EventGroups result.
As far as I understand the EventGroups that this yields are identical to DRAGEN's, but I added a note that the algorithm is significantly different.
.../hellbender/tools/walkers/haplotypecaller/PartiallyDeterminedHaplotypeComputationEngine.java
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// Special case (if we are determining bases outside of this mutex cluster we can reuse the work from previous iterations) | ||
if (locusOverlapSet.isEmpty() && cachedEventSets != null) { | ||
// We use a cache for the recurring case where the determined events do not belong to this event group | ||
if (determinedSubset.isEmpty() && cachedEventSets != null) { |
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i'm not sure this logic is correct anymore? Determined subset will usually never be empty here because its coming from the list of alleles and you haven't actually checked that it is or isn't present in this event group.
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i think its safer to put this subset checking code inside of this method rather than outside
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I improved this part.
.../hellbender/tools/walkers/haplotypecaller/PartiallyDeterminedHaplotypeComputationEngine.java
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@davidbenjamin back to you. I notice a test is broken? |
@davidbenjamin I notice this PR was uploaded in two places? |
@jamesemery back to you -- in the other PR, which was an accident. While you take another look I think I will work on a unit test for the new branching code. |
@jamesemery To be clear, comments are here, but code to review is in the other PR!!!! |
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