Description

Annotation and Ranking of Structural Variation

Input

name:type
description
pattern

meta

:map

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

sv_vcf

:file

A VCF or BED file containing the structural variants to be annotated

*.{bed,vcf,vcf.gz}

sv_vcf_index

:file

OPTIONAL - The index for gzipped VCF files

*.tbi

candidate_small_variants

:file

OPTIONAL - A file containing candidate small variants

*.{vcf,vcf.gz}

meta2

:map

Groovy Map containing annotations information

annotations

:directory

The directory containing the annotations (URL to download this will be made available soon) For now this can be downloaded in the way defined in the repo (https://github.com/lgmgeo/AnnotSV#quick-installation)

meta3

:map

Groovy Map containing candidate genes information

candidate_genes

:file

OPTIONAL - A file containing genes (either space-separated, tab-separated or line-break-separated)

*.txt

meta4

:map

Groovy Map containing candidate false positive SNV information

false_positive_snv

:file

OPTIONAL - A VCF file containing small variant candidates

*.{vcf,vcf.gz}

meta5

:map

Groovy Map containing candidate gene transcripts information

gene_transcripts

:file

OPTIONAL - A file containing the preferred gene transcripts to be used in priority during annotation (either space-separated or tab-separated)

*.txt

Output

name:type
description
pattern

tsv

meta

:map

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

*.tsv

:file

A TSV file containing the annotated variants

*.tsv

unannotated_tsv

meta

:map

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

*.unannotated.tsv

:file

OPTIONAL - TSV file containing the unannotated variants

*.unannotated.tsv

vcf

meta

:map

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

*.vcf

:file

OPTIONAL - A VCF file containing the annotated variants (created when -vcf 1 is specified in the args)

*.vcf

versions_annotsv

${task.process}

:string

The name of the process

annotsv

:string

The name of the tool

AnnotSV --version | sed 's/AnnotSV //'

:eval

The expression to obtain the version of the tool

Topics

name:type
description
pattern

versions

${task.process}

:string

The name of the process

annotsv

:string

The name of the tool

AnnotSV --version | sed 's/AnnotSV //'

:eval

The expression to obtain the version of the tool

Tools

annotsv
GPL-3.0

Annotation and Ranking of Structural Variation