Description

Call germline SNPs and indels via local re-assembly of haplotypes

Input

name:type
description
pattern

meta

:map

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

input

:file

BAM/CRAM file from alignment

*.{bam,cram}

input_index

:file

BAI/CRAI file from alignment

*.{bai,crai}

intervals

:file

Bed file with the genomic regions included in the library (optional)

dragstr_model

:file

Text file containing the DragSTR model of the used BAM/CRAM file (optional)

*.txt

meta2

:map

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

fasta

:file

The reference fasta file

*.fasta

meta3

:map

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

fai

:file

Index of reference fasta file

fasta.fai

meta4

:map

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

dict

:file

GATK sequence dictionary

*.dict

meta5

:map

Groovy Map containing dbsnp information e.g. [ id:‘test_dbsnp’ ]

dbsnp

:file

VCF file containing known sites (optional)

meta6

:map

Groovy Map containing dbsnp information e.g. [ id:‘test_dbsnp’ ]

dbsnp_tbi

:file

VCF index of dbsnp (optional)

Output

name:type
description
pattern

vcf

meta

:map

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

*.vcf.gz

:file

Compressed VCF file

*.vcf.gz

tbi

meta

:map

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

*.tbi

:file

Index of VCF file

*.vcf.gz.tbi

bam

meta

:map

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

*.realigned.bam

:file

Assembled haplotypes and locally realigned reads

*.realigned.bam

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.