Description

A tool to evaluate variant calling performance by comparing a query VCF against a truth VCF.

Input

name:type
description
pattern

meta

:map

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

query_vcf

:file

Query VCF file to be benchmarked

*.{vcf,vcf.gz}

query_vcf_tbi

:file

Index for the query VCF file

*.{vcf.gz.tbi,vcf.gz.csi}

truth_vcf

:file

Truth VCF file containing the ground truth baseline

*.{vcf,vcf.gz}

truth_vcf_tbi

:file

Index for the truth VCF file

*.{vcf.gz.tbi,vcf.gz.csi}

regions_bed

:file

Regions BED file containing genomic regions to restrict the evaluation

*.{bed}

meta2

:map

Groovy Map containing reference fasta information

fasta

:file

Reference genome fasta file

*.{fasta,fa,fasta.gz,fa.gz}

meta3

:map

Groovy Map containing stratification TSV information

stratification_tsv

:file

Optional TSV file defining stratification regions for fine grained benchmarking

*.tsv

meta4

:map

Groovy Map containing stratification BEDs information

stratification_beds

:file

Optional BED files corresponding to the regions defined in the stratification TSV

*.bed

Output

name:type
description
pattern

summary

meta

:map

Groovy Map containing sample information

*.summary.tsv

:file

Global summary statistics of the variant comparison

*.summary.tsv

labelled_truth

meta

:map

Groovy Map containing sample information

*.truth.vcf.gz

:file

Truth VCF file annotated with evaluation results

*.truth.vcf.gz

labelled_query

meta

:map

Groovy Map containing sample information

*.query.vcf.gz

:file

Query VCF file annotated with evaluation results

*.query.vcf.gz

runinfo

meta

:map

Groovy Map containing sample information

*.json

:file

JSON file containing parameter settings used during the run

*.json

region_sequences

meta

:map

Groovy Map containing sample information

*.region_sequences.tsv.gz

:file

Sequence level output for specific evaluated regions

*.region_sequences.tsv.gz

region_summary

meta

:map

Groovy Map containing sample information

*.region_summary.tsv.gz

:file

Summary statistics broken down by individual genomic regions

*.region_summary.tsv.gz

versions_aardvark

${task.process}

:string

The name of the process

aardvark

:string

The name of the tool

aardvark compare --version 2>&1 | sed 's/aardvark-bio-compare //; s/-conda//'

:eval

The expression to obtain the version of the tool

Topics

name:type
description
pattern

versions

${task.process}

:string

The name of the process

aardvark

:string

The name of the tool

aardvark compare --version 2>&1 | sed 's/aardvark-bio-compare //; s/-conda//'

:eval

The expression to obtain the version of the tool

Tools

aardvark
MIT

A benchmarking tool that constructs haplotype sequences and it enables basepair-level comparisons that work across all variant types. The program evaluates genotypes using traditional, strict exact-match scoring, while also allowing for implicit partial credit when variant calls are an inexact but close match.