Description

Combine per-sample gVCF files produced by HaplotypeCaller into a multi-sample gVCF file

Input

Name (Type)
Description
Pattern

meta (map)

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

vcf (file)

Compressed VCF files

*.vcf.gz

vcf_idx (file)

VCF Index file

*.vcf.gz.idx

fasta (file)

The reference fasta file

*.fasta

fai (file)

FASTA index file

*.fasta.fai

dict (file)

FASTA dictionary file

*.dict

Output

Name (Type)
Description
Pattern

combined_gvcf (file)

Compressed Combined GVCF file

*.combined.g.vcf.gz

versions (file)

File containing software versions

versions.yml

Tools

gatk4
Apache-2.0

Genome Analysis Toolkit (GATK4). 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.