Description

Call somatic SNVs and indels via local assembly of haplotypes.

Input

name:type
description
pattern

meta:map

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

input:list

list of BAM files, also able to take CRAM as an input

*.{bam/cram}

input_index:list

list of BAM file indexes, also able to take CRAM indexes as an input

*.{bam.bai/cram.crai}

intervals:file

Specify region the tools is run on.

.{bed,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

germline_resource:file

Population vcf of germline sequencing, containing allele fractions.

*.vcf.gz

germline_resource_tbi:file

Index file for the germline resource.

*.vcf.gz.tbi

panel_of_normals:file

vcf file to be used as a panel of normals.

*.vcf.gz

panel_of_normals_tbi:file

Index for the panel of normals.

*.vcf.gz.tbi

Output

name:type
description
pattern

vcf

meta:file

compressed vcf file

*.vcf.gz

*.vcf.gz:file

compressed vcf file

*.vcf.gz

tbi

meta:file

Index of vcf file

*vcf.gz.tbi

*.tbi:file

Index of vcf file

*vcf.gz.tbi

stats

meta:file

Stats file that pairs with output vcf file

*vcf.gz.stats

*.stats:file

Stats file that pairs with output vcf file

*vcf.gz.stats

f1r2

meta:file

file containing information to be passed to LearnReadOrientationModel (only outputted when tumor_normal_pair mode is run)

*.f1r2.tar.gz

*.f1r2.tar.gz:file

file containing information to be passed to LearnReadOrientationModel (only outputted when tumor_normal_pair mode is run)

*.f1r2.tar.gz

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.