Description

Determines the baseline contig ploidy for germline samples given counts data

Input

name:type
description
pattern

meta:map

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

]

counts:file

One or more count TSV files created with gatk/collectreadcounts

*.tsv

bed:file

Optional - A bed file containing the intervals to include in the process

*.bed

exclude_beds:file

Optional - One or more bed files containing intervals to exclude from the process

*.bed

meta2:map

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

ploidy_model:directory

Optional - A folder containing the ploidy model. When a model is supplied to tool will run in CASE mode. pattern: ‘*.model/’

contig_ploidy_table:file

The contig ploidy priors table

*.tsv

Output

name:type
description
pattern

calls

meta:map

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

]

${prefix}-calls:directory

A folder containing the calls from the input files

*-calls/

model

meta:map

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

]

${prefix}-model:directory

A folder containing the model from the input files. This will only be created in COHORT mode (when no model is supplied to the process).

*-model/

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.

gatk.broadinstitute.org/hc/en-us gatk.broadinstitute.org/hc/en-us/categories/360002369672s 10.1158/1538-7445.AM2017-3590
createpanelrefs raredisease
Github user nvnieuwk
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