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Update CombineBatches workflow #732
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Add reformatting to GenotypeBatch Expose reformat_script Start ripping stuff out Finish rewriting wdl and template Add TODO and delete unused task
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Replaces most methods in the CombineBatches workflow with a greatly simplified set of tasks that utilize GATK
SVCluster
and the newGroupedSVCluster
tool (see PR).SVCluster
replaces most of the current functionality including VCF joining and clustering, whileGroupedSVCluster
introduces refined clustering (a.k.a. "reclustering") that has become a best practice for larger call sets.Clustering refinement is critical for consolidating redundant variants in repetitive sequence contexts such as simple repeats and segmental duplications. This also addresses an issue with duplicate insertions that share coordinates but have slightly different split read signatures (i.e. different END positions).
In addition, this PR makes some minor improvements to VCF formatting and parsing:
GenotypeBatch
, CNVs are now formatted the same way as inCleanVcf
, i.e. no genotypes and<CNV>
ALT allele andSVTYPE=CNV
, rather than using alt alleles<CN0>,<CN1>,…
and havingSVTYPE=DUP
. In case a user needs to run on a VCF with the old format, there is alegacy_vcfs
flag inCombineBatches
that will update to the new format prior to processing.CombineBatches
, records are annotated withHIGH_SR_BACKGROUND
andBOTHSIDE_PASS
INFO field flags rather than passing around separate lists, which is cumbersome..get()
for accessing FORMAT fields rather than brackets. This was required in some cases because GATK omits a FORMAT field if it is null for all samples in a given record. Pysam then throws an error since the requested key does not exist, whereas.get()
returnsNone
.CombineBatches
to minimize risk of bugs in downstream workflows.