Description

Detecting and estimating inter-sample DNA contamination became a crucial quality assessment step to ensure high quality sequence reads and reliable downstream analysis.

Input

name:type
description
pattern

meta:map

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

]

bam:file

BAM/CRAM/SAM file

*.{bam,cram,sam}

bai:file

BAI/CRAI/CSI index file

*.{bai,crai,csi}

svd_ud:file

.UD matrix file from SVD result of genotype matrix

*.UD

svd_mu:file

.mu matrix file of genotype matrix

*.mu

svd_bed:file

.Bed file for markers used in this analysis,format(chr\tpos-1\tpos\trefAllele\taltAllele)[Required]

*.bed

refvcf:file

Reference panel VCF with genotype information, for generation of .UD .mu .bed files [Optional]

*.vcf

references:file

reference file [Required]

*.fasta

Output

name:type
description
pattern

log

meta:map

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

]

*.log:file

Detailed summary of the VerifyBamId2 results

*.log

ud

meta:map

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

]

*.UD:file

.UD matrix file from customized reference vcf input

*.UD

bed

meta:map

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

]

*.bed:file

.Bed file from customized reference marker vcf input

*.bed

mu

meta:map

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

]

*.mu:file

.mu matrix file of genotype matrix from customized reference vcf input

*.mu

self_sm

meta:map

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

]

*.selfSM:file

Shares the same format as legacy VB1 and the key information FREEMIX indicates the estimated contamination level.

*.selfSM

ancestry

meta:map

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

]

*.Ancestry:file

Ancestry information

*.Ancestry

versions

versions.yml:file

File containing software versions

versions.yml

Tools

verifybamid2
MIT

A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.