Description

SVTyper performs breakpoint genotyping of structural variants (SVs) using whole genome sequencing data

Input

name:type
description
pattern

meta{:bash}

:map

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

bam{:bash}

:file

BAM/CRAM/SAM file

*.{bam,cram,sam}

bam_index{:bash}

:file

Index of the BAM/CRAM/SAM file

*.{bai,crai,sai}

vcf{:bash}

:file

Matching VCF of alignments

*.vcf

meta2{:bash}

:map

Groovy Map containing sample information for FASTA file e.g. [ id:‘fasta’]

fasta{:bash}

:file

FASTA file used to generate alignments

*.{fa,fasta}

meta2{:bash}

:map

Groovy Map containing sample information for FASTA file e.g. [ id:‘fasta’]

fai{:bash}

:file

FAI file used to generate alignments

*.{fai}

Output

name:type
description
pattern

json{:bash}

meta{:bash}

:map

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

*.json{:bash}

:file

JSON file including Library information

*.json

gt_vcf{:bash}

meta{:bash}

:map

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

*.vcf{:bash}

:file

Genotyped SVs

*.vcf

bam{:bash}

meta{:bash}

:map

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

*.bam{:bash}

:file

BAM file with

*.bam

versions{:bash}

versions.yml{:bash}

:file

File containing software versions

versions.yml

Tools

svtyper
MIT

Compute genotype of structural variants based on breakpoint depth