Description

Summarizes counts of reads that support reference, alternate and other alleles for given sites. Results can be used with CalculateContamination. Requires a common germline variant sites file, such as from gnomAD.

Input

name:type
description
pattern

meta:map

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

input:file

BAM/CRAM file to be summarised.

*.{bam,cram}

index:file

Index file for the input BAM/CRAM file.

*.{bam.bai,cram.crai}

intervals:file

File containing specified sites to be used for the summary. If this option is not specified, variants file is used instead automatically.

*.interval_list

meta2:map

Groovy Map containing reference information e.g. [ id:‘genome’ ]

fasta:file

The reference fasta file

*.fasta

meta3:map

Groovy Map containing reference information e.g. [ id:‘genome’ ]

fai:file

Index of reference fasta file

*.fasta.fai

meta4:map

Groovy Map containing reference information e.g. [ id:‘genome’ ]

dict:file

GATK sequence dictionary

*.dict

variants:file

Population vcf of germline sequencing, containing allele fractions. Is also used as sites file if no separate sites file is specified.

*.vcf.gz

variants_tbi:file

Index file for the germline resource.

*.vcf.gz.tbi

Output

name:type
description
pattern

table

meta:map

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

*.pileups.table:file

Table containing read counts for each site.

*.pileups.table

versions

versions.yml:file

File containing software versions

versions.yml

Tools

gatk4
Apache-2.0

Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size.