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@github-actions github-actions released this 08 May 18:57
· 0 commits to fe32d919a394e37fb22968c71fe0a4e717c91ec9 since this release

Updated short read variant calling and joint calling pipelines to run at scale (#450)

Single-sample variant calling:

  • Fixied critical typo in HaplotypeCaller disk spec.
  • Fixed wdl-computed divide by zero error in SRFlowcell outputs.
  • Updated MergeVCFs to have an option to name an output as a GVCF.
  • Removed deprecated GC logging flags from GATK commands.
  • Fixed issue in FastQC if no read qualities are in the file.
  • Added missing annotation groups to ReblockGVCFs.
  • HaplotypeCaller WDL now returns the reblocked GVCF.

Joint Calling:

  • Added option to use gnarly genotyper
  • Added het inputs to joint genotyping
  • Fixed java memory allocation in joint genotyping to be based on memory of the VM, not hard-coded
  • Fixed name of outdir in ConvertToZarrStore to be correct for this workflow.
  • Updated the zarr conversion to use parallel Dask processes and to log to stdout.
  • Upped default zarr conversion memory to 32gb.

VETS:

  • Added stack trace logging for errors in ExtractVariantAnnotations,
    TrainVariantAnnotationsModel, and ScoreVariantAnnotations.
  • Removed HAPCOMP, HAPDOM, and HEC from default annotations for SNP and INDEL VETS filtration on joint-called VCF files. Need to do more testing / debugging to include these in joint calling.

Misc:

  • Fixed the name of the workflow in ExpandedDrugResistanceMarkerAggregation to reflect the actual name.
  • Miscellaneous updates for debugging