Description

Adds predicted functional consequence, gene overlap, and noncoding element overlap annotations to SV VCF from GATK-SV pipeline. Input files are an SV VCF, a GTF file containing primary or canonical transcripts, and a BED file containing noncoding elements. Output file is an annotated SV VCF.

Input

name:type
description
pattern

meta

:map

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

vcf

:file

A VCF file created with a structural variant caller

*.vcf.gz

tbi

:file

The index file of the VCF

*.vcf.gz.tbi

bed

:file

Regions to limit the analysis to

*.bed

non_coding_bed

:file

File containing noncoding regions

*.bed

meta2

:map

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

fasta

:file

Optional - reference FASTA file needed when the input is a CRAM file

*.{fasta,fa}

meta3

:map

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

fasta_fai

:file

Optional - index of the reference FASTA file needed when the input is a CRAM file

*.fai

meta4

:map

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

dict

:file

Optional - sequence dictionary of the reference FASTA file needed when the input is a CRAM file

*.dict

meta5

:map

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

gtf

:file

Optional - GTF file containing transcript information

*.gtf

Output

name:type
description
pattern

vcf

meta

:map

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

*.vcf.gz

:file

The annotated structural variant VCF

*.vcf.gz

tbi

meta

:map

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

*.vcf.gz.tbi

:file

The index of the VCF

*.vcf.gz.tbi

versions_gatk4

${task.process}

:string

The name of the process

gatk4

:string

The name of the tool

gatk --version | sed -n '/GATK.*v/s/.*v//p'

:eval

The expression to obtain the version of the tool

Topics

name:type
description
pattern

versions

${task.process}

:string

The name of the process

gatk4

:string

The name of the tool

gatk --version | sed -n '/GATK.*v/s/.*v//p'

:eval

The expression to obtain the version of the tool