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name : gatk4_getpileupsummaries
description : |
Summarizes counts of reads that support reference, alternate and other alleles for given sites. Results can be used with CalculateContamination. Requires a common germline variant sites file, such as from gnomAD.
keywords :
- gatk4
- getpileupsumaries
- readcountssummary
- germlinevariantsites
tools :
- gatk4 :
description : |
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.
homepage : https://gatk.broadinstitute.org/hc/en-us
documentation : https://gatk.broadinstitute.org/hc/en-us/categories/360002369672s
doi : 10.1158 /1538-7445.AM2017-3590
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licence : [ "Apache-2.0" ]
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input :
- meta :
type : map
description : |
Groovy Map containing sample information
e.g. [ id:'test' ]
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- input :
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type : file
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description : BAM/CRAM file to be summarised.
pattern : "*.{bam,cram}"
- input_index :
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type : file
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description : BAM/CRAM file index.
pattern : "*.{bai,crai}"
- intervals :
type : file
description : File containing specified sites to be used for the summary. If this option is not specified, variants file is used instead automatically.
pattern : "*.interval_list"
- fasta :
type : file
description : The reference fasta file
pattern : "*.fasta"
- fai :
type : file
description : Index of reference fasta file
pattern : "*.fasta.fai"
- dict :
type : file
description : GATK sequence dictionary
pattern : "*.dict"
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- variants :
type : file
description : Population vcf of germline sequencing, containing allele fractions. Is also used as sites file if no separate sites file is specified.
pattern : "*.vcf.gz"
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- variants_tbi :
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type : file
description : Index file for the germline resource.
pattern : "*.vcf.gz.tbi"
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output :
- pileup :
type : file
description : File containing the pileup summary table.
pattern : "*.pileups.table"
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- versions :
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type : file
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description : File containing software versions
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pattern : "versions.yml"
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authors :
- "@GCJMackenzie"