Description

SvABA is an efficient and accurate method for detecting SVs from short-read sequencing data using genome-wide local assembly with low memory and computing requirements

Input

name:type
description
pattern

meta:map

Groovy Map containing sample information id: should be the identification number or sample name. If there is normal file meta should be common e.g. [ id:‘test’ ]

tumorbam:file

Tumor or metastatic sample, BAM, SAM or CRAM file

*.{bam,cram,sam}

tumorbai:file

Index of the tumor or metastatic sample

*.{bai,crai,sai}

normalbam:file

Control (or normal) of matching tumor/metastatic sample, BAM, SAM or CRAM file

*.{bam,cram,sam}

normalbai:file

Index

*.{bai,crai,sai}

meta2:map

Groovy Map containing FASTA information id: should be the identification number for alignment file and should be the same used to create BWA index files e.g. [ id:‘fasta’ ]

fasta:file

FASTA file

*.{fasta|fa}

meta3:map

Groovy Map containing FASTA information id: should be the identification number for alignment file and should be the same used to create BWA index files e.g. [ id:‘fasta’ ]

fasta_fai:file

Index of FASTA file

*.{fai}

meta4:map

Groovy Map containing BWA information id: should be the identification number same as fasta file e.g. [ id:‘bwa’ ]

bwa_index:file

BWA genome index files. Note that this tool requires the bwa index files to be of the format prefix.suffix.amb, where prefix.suffix is the full name of the fasta file, not just the prefix.

Directory containing BWA index *.{amb,ann,bwt,pac,sa}

meta5:map

Groovy Map containing dbSNP information id: should be the identification number for dbSNP files e.g. [ id:‘test’ ]

dbsnp:file

VCF file including dbSNP variants

*.vcf.gz

meta6:map

Groovy Map containing dbSNP information id: should be the identification number for dbSNP files e.g. [ id:‘test’ ]

dbsnp_tbi:file

Index of VCF file including dbSNP variants

*.vcf.gz.tbi

meta7:map

Groovy Map containing regions information id: should be the identification number for regions e.g. [ id:‘test’ ]

regions:file

Targeted intervals. Accepts BED file or Samtools-style string

*.bed|*.txt|*.tab

Output

name:type
description
pattern

sv

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.sv.vcf.gz:file

Filtered SVs for tumor only cases

*.vcf.gz

indel

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.indel.vcf.gz:file

Filtered Indels for tumor only cases

*.vcf.gz

germ_indel

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.germline.indel.vcf.gz:file

Germline filtered Indels for tumor/normal paired samples

*.vcf.gz

germ_sv

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.germline.sv.vcf.gz:file

Germline filtered SVs for tumor/normal paired samples

*.vcf.gz

som_indel

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.somatic.indel.vcf.gz:file

Somatic filtered Indels for tumor/normal paired samples

*.vcf.gz

som_sv

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.somatic.sv.vcf.gz:file

Somatic filtered SVs for tumor/normal paired samples

*.vcf.gz

unfiltered_sv

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.unfiltered.sv.vcf.gz:file

Unfiltered SVs for tumor only cases

*.vcf.gz

unfiltered_indel

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.unfiltered.indel.vcf.gz:file

Unfiltered Indels for tumor only cases

*.vcf.gz

unfiltered_germ_indel

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.unfiltered.germline.indel.vcf.gz:file

Unfiltered germline Indels for tumor/normal paired samples

*.vcf.gz

unfiltered_germ_sv

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.unfiltered.germline.sv.vcf.gz:file

Unfiltered germline SVs for tumor/normal paired samples

*.vcf.gz

unfiltered_som_indel

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.unfiltered.somatic.indel.vcf.gz:file

Unfiltered somatic Indels for tumor/normal paired samples

*.vcf.gz

unfiltered_som_sv

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.svaba.unfiltered.somatic.sv.vcf.gz:file

Unfiltered somatic SVs for tumor/normal paired samples

*.vcf.gz

raw_calls

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.bps.txt.gz:file

Raw, unfiltered variants

*.txt.gz

discordants

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.discordants.txt.gz:file

Information on all clusters of discordant reads identified with 2+ reads

*.txt.gz

log

meta:map

Groovy Map containing sample information e.g. [ id:‘test’ ]

*.log:file

Log file

*.txt.gz

versions

versions.yml:file

File containing software versions

versions.yml