Description

CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome.

Input

name:type
description
pattern

meta:map

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

vcf:file

Input file for annotation in vcf or vcf.gz format

*.{vcf,vcf.gz}

meta2:map

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

annotation_dir:directory

Path to folder containing the vcf files with precomputed CADD scores. This folder contains the uncompressed files that would otherwise be in data/annotation folder as described in https://github.com/kircherlab/CADD-scripts/#manual-installation.

meta3:map

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

prescored_dir:directory

Path to folder containing prescored files. This folder contains the uncompressed files that would otherwise be in data/prescored/{GENOME_BUILD}_{VERSION}/ folder as described in https://github.com/kircherlab/CADD-scripts/#manual-installation.

Output

name:type
description
pattern

tsv

meta:map

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

*.tsv.gz:file

Annotated tsv file

*.{tsv,tsv.gz}

versions

versions.yml:file

File containing software versions

versions.yml

Tools

raredisease
Github user ramprasadn
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