Workflow: SVision-Pro workflow for structural variant detection in cancer samples

Fetched 2025-04-27 17:19:16 GMT

A workflow that uses SVision-Pro to identify structural variants in tumor/normal paired samples from Oxford Nanopore Technology (ONT) long-read sequencing data.

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Inputs

ID Type Title Doc
threads Integer (Optional)

Number of threads to use for alignment and SV calling

min_sv_size Integer (Optional)

Minimum structural variant size to detect

tumor_reads File [format]

Tumor sample ONT reads in FASTQ or BAM format

normal_reads File [format]

Normal/control sample ONT reads in FASTQ or BAM format

output_prefix String

Prefix for output files

reference_genome File [format]

Reference genome in FASTA format

min_support_reads Integer (Optional)

Minimum number of supporting reads required for SV calling

reference_genome_index File (Optional)

Index file for reference genome (.fai)

Steps

ID Runs Label Doc
align_tumor
minimap2-align.cwl (CommandLineTool)
Minimap2 long read alignment tool

Minimap2 is a versatile sequence alignment program that aligns DNA or mRNA sequences against a large reference database. It is particularly optimized for Oxford Nanopore and PacBio reads.

align_normal
minimap2-align.cwl (CommandLineTool)
Minimap2 long read alignment tool

Minimap2 is a versatile sequence alignment program that aligns DNA or mRNA sequences against a large reference database. It is particularly optimized for Oxford Nanopore and PacBio reads.

index_reference
samtools-faidx.cwl (CommandLineTool)
Samtools faidx index generator

Tool to generate FASTA index files using samtools faidx

run_svisionpro_somatic
svisionpro-somatic.cwl (CommandLineTool)
SVision-Pro somatic structural variant caller

SVision-Pro is a structural variant (SV) caller designed for long-read sequencing data, with special optimization for Oxford Nanopore Technology reads. This tool definition is for somatic variant calling using tumor-normal paired samples.

Outputs

ID Type Label Doc
sv_vcf File
sv_report File
tumor_bam File
normal_bam File
Permalink: https://w3id.org/cwl/view/git/9cc2a31a5687e414af6f2887b21b45432d3e5871/workflow/main.cwl