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ResolveComplexVariants

WDL source code

Identifies multi-breakpoint complex variants, which are annotated with the CPX value in the SVTYPE field. These variants are putative, as read depth evidence is not assessed at this stage.

The following diagram illustrates the recommended invocation order:

Inputs​

info

Some inputs of batch data must match in order. Specifically, the order of the disc_files array should match that of rf_cutoff_files.

cohort_name​

Cohort name. The guidelines outlined in the sample ID requirements section apply here.

Optional merge_vcfs​

Default: false. If true, merge contig-sharded VCFs into one genome-wide VCF. This may be used for convenience but cannot be used with downstream workflows.

cluster_vcfs​

Array of contig-sharded VCFs, generated in CombineBatches.

cluster_bothside_pass_lists​

Array of variant lists with bothside SR support for all batches, generated in CombineBatches.

cluster_background_fail_lists​

Array of variant lists with low SR signal-to-noise ratio for all batches, generated in CombineBatches.

disc_files​

Array of PE evidence files for all batches from GatherBatchEvidence.

rf_cutoffs​

Array of batch genotyping cutoff files trained with the random forest filtering model from FilterBatch. Must match the order of disc_files.

Outputs​

complex_resolve_vcfs​

Array of contig-sharded VCFs containing putative complex variants.

complex_resolve_bothside_pass_list​

Array of contig-sharded bothside SR support variant lists.

complex_resolve_background_fail_list​

Array of contig-sharded high SR background variant lists.

breakpoint_overlap_dropped_record_vcfs​

Variants dropped due to exact overlap with another's breakpoint.

complex_resolve_merged_vcf​

Genome-wide output VCF. Only generated if using merge_vcfs.