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ReferenceConfidenceVariantContextMerger.merge() should use remapped alleles when genotyping #8317

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droazen opened this issue May 12, 2023 · 1 comment
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@droazen
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droazen commented May 12, 2023

Currently ReferenceConfidenceVariantContextMerger.merge() does not pass in the remapped alleles to GATKVariantContextUtils.makeGenotypeCall() for the originalGT argument, which seems problematic and could cause the code to incorrectly fall back on reference calls in some cases. The GVS team has found it necessary to use the remapped alleles when genotyping in order to get correct genotypes out of the merge -- we should make this behavior the default.

Currently, making it the default causes failures in the tests for the --include-non-variant-sites argument in GenotypeGVCFs (see #8288 (comment)). This appears related to the current implementation incorrectly calculating the reference allele when we are at some non-zero offset from the start of a GVCF reference block.

@droazen droazen self-assigned this May 12, 2023
droazen added a commit that referenced this issue May 12, 2023
…tMerger to perform allele remapping prior to genotyping

This is intended to tide the GVS team over until #8317 is fixed.
@droazen
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droazen commented May 12, 2023

See #8318 for an implementation of the desired behavior.

mcovarr pushed a commit that referenced this issue May 12, 2023
…tMerger to perform allele remapping prior to genotyping

This is intended to tide the GVS team over until #8317 is fixed.
droazen added a commit that referenced this issue May 17, 2023
…tMerger to perform allele remapping prior to genotyping (#8318)

This is intended to tide the GVS team over until #8317 is fixed.
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