Description

Estimate repeat sizes using NGS data

Input

name:type
description
pattern

meta{:bash}

:map

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

bam{:bash}

:file

BAM/CRAM file

*.{bam,cram}

bai{:bash}

:file

Index of BAM/CRAM file

*.{bai,crai}

meta2{:bash}

:map

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

fasta{:bash}

:file

Reference genome

*.{fna,fa,fasta}

meta3{:bash}

:map

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

fasta_fai{:bash}

:file

Reference genome index

*.fai

meta4{:bash}

:map

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

variant_catalog{:bash}

:file

JSON file with repeat expansion sites to genotype

*.json

Output

name:type
description
pattern

vcf{:bash}

meta{:bash}

:map

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

*.vcf.gz{:bash}

:file

VCF with repeat expansions

*.vcf.gz

json{:bash}

meta{:bash}

:map

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

*.json.gz{:bash}

:file

JSON with repeat expansions

*.json.gz

bam{:bash}

meta{:bash}

:map

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

*_realigned.bam{:bash}

:file

BAM/CRAM file

*.{bam,cram}

versions_expansionhunter{:bash}

${task.process}{:bash}

:string

The process the versions were collected from

expansionhunter{:bash}

:string

The tool name

ExpansionHunter --version | head -1 | sed -n 's/^.*ExpansionHunter v//; s/]//p'{:bash}

:eval

The expression to obtain the version of the tool

versions_bgzip{:bash}

${task.process}{:bash}

:string

The process the versions were collected from

bgzip{:bash}

:string

The tool name

bgzip --version | sed '1!d;s/.* //'{:bash}

:eval

The expression to obtain the version of the tool

Topics

name:type
description
pattern

versions{:bash}

${task.process}{:bash}

:string

The process the versions were collected from

expansionhunter{:bash}

:string

The tool name

ExpansionHunter --version | head -1 | sed -n 's/^.*ExpansionHunter v//; s/]//p'{:bash}

:eval

The expression to obtain the version of the tool

${task.process}{:bash}

:string

The process the versions were collected from

bgzip{:bash}

:string

The tool name

bgzip --version | sed '1!d;s/.* //'{:bash}

:eval

The expression to obtain the version of the tool