Workflow: SV Pipeline

Fetched 2025-07-06 15:07:29 GMT
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Inputs

ID Type Title Doc
minwt Integer (Optional)

Minimum weight parameter for lumpy.

reference File

Absolute path to reference.fa. Should have reference.dict and .fai files in the same directory

same_type Boolean (Optional)

Require that SVs be reported as the same type of event from different callers. Used by SURVIVOR

ref_genome String

Name of genome, eg: hg19. Should match snpEff db

same_strand Boolean (Optional)

Require that SVs be reported on the same strand from different callers. Used by SURVIVOR

sample_bams File[]

Array of bam files. Contains cfDNA/plasma samples. Should have .bai files in same directory

snpEff_data Directory

snpEff db. Example: /location/of/database/hg19

read_support Integer

Minimum required number of total split-reads + paired-end reads that support a variant.

sv_whitelist File (Optional)

Tab-delimited bed file of SV hotspots. Each line in the bed file should describe a likely breakpoint region. For example, if one end of a suspect structural variant is expected to be around chr1:5000, the bed file might include 'chr1 4000 6000'.

neither_region File

Bed file. Neither end of SV should fall in these regions

notboth_region File

Bed file. Max of one end of SV is allowed to be in these regions

target_regions File

Bed file of target regions from targeted sequencing

minimum_sv_size Integer (Optional)

Minimum bp length to be considered. Used by SURVIVOR

minimum_sv_calls Integer (Optional)

Minimum number of callers that must call an SV for it to be considered a consensus call. Range 1-3.

matched_control_bams File[]

Array of bam files. Should be in the same order as sample_bams (ie the nth sample in each array are matches). Should have .bai files in same directory

panel_of_normal_bams File[]

Array of bams used as an unmatched, panel of normals. Should have accompanying .bai files

max_distance_to_merge Integer (Optional)

Parameter for SURVIVOR - merging distance of SVs

Steps

ID Runs Label Doc
sv_calling Perform SV calling of sample vs matched control using Delly, Lumpy, and Manta
identify_somatic_calls Identify somatic SVs

Outputs

ID Type Label Doc
somatic_svs_bedpe File

Final list of all SVs called

Permalink: https://w3id.org/cwl/view/git/656d9ae18f164f983c5672bcf51037cd73309f4f/pipelines/sv_pipeline.cwl