Description

A large variant benchmarking tool analogous to hap.py for small variants.

Input

name:type
description
pattern

meta{:bash}

:map

Groovy Map containing sample information e.g. [ id:'sample1', single_end:false ]

query_vcf{:bash}

:file

A VCF with called variants to benchmark against the standard

*.{vcf}

truth_vcf{:bash}

:file

A standard VCF to compare against

*.{vcf}

bed{:bash}

:file

A BED file specifying regions to be included in the analysis (optional)

*.bed

wittyer_config{:bash}

:file

Config file in json format used to specify per variant type settings. Used in place of include bed arguments. (optional)

*.json

Output

name:type
description
pattern

report{:bash}

meta{:bash}

:map

Groovy Map containing sample information e.g. [ id:'sample1', single_end:false ]

*.json{:bash}

:file

Detailed per-sample-pair, per-svtype, per-bin stats

*.json

bench_vcf{:bash}

meta{:bash}

:map

Groovy Map containing sample information e.g. [ id:'sample1', single_end:false ]

*.vcf.gz{:bash}

:file

Updated query and truth entries merged into one file

*.vcf.gz

bench_vcf_tbi{:bash}

meta{:bash}

:map

Groovy Map containing sample information e.g. [ id:'sample1', single_end:false ]

*.vcf.gz.tbi{:bash}

:file

Index of merged query and truth entries VCF file

*.vcf.gz.tbi

versions_wittyer{:bash}

${task.process}{:bash}

:string

The process the versions were collected from

wittyer{:bash}

:string

The name of the tool

dotnet /opt/Wittyer/Wittyer.dll --version | sed '1!d ; s/witty.er //'{: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

wittyer{:bash}

:string

The name of the tool

dotnet /opt/Wittyer/Wittyer.dll --version | sed '1!d ; s/witty.er //'{:bash}

:eval

The expression to obtain the version of the tool

Tools

wittyer
BSD-2

Illumina tool for large variant benchmarking