Description

Tool to phase common sites, typically SNP array data, or the first step of WES/WGS data.

Input

name:type
description
pattern

meta{:bash}

:map

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

input{:bash}

:file

Target dataset in VCF/BCF format defined at all variable positions. The file could possibly be without GT field (for efficiency reasons a file containing only the positions is recommended).

*.{vcf,bcf,vcf.gz,bcf.gz}

input_index{:bash}

:file

Index file of the input VCF/BCF file containing genotype likelihoods.

*.{vcf.gz.csi,bcf.gz.csi}

pedigree{:bash}

:file

Pedigree information in the following format: offspring father mother.

*.{txt, tsv}

region{:bash}

:string

Target region, usually a full chromosome (e.g. chr20:1000000-2000000 or chr20). For chrX, please treat PAR and non-PAR regions as different choromosome in order to avoid mixing ploidy.

chrXX:leftBufferPosition-rightBufferPosition

reference{:bash}

:file

Reference panel of haplotypes in VCF/BCF format.

*.{vcf.gz,bcf.gz}

reference_index{:bash}

:file

Index file of the Reference panel file.

*.{vcf.gz.csi,bcf.gz.csi}

scaffold{:bash}

:file

Scaffold of haplotypes in VCF/BCF format.

*.{vcf.gz,bcf.gz}

scaffold_index{:bash}

:file

Index file of the scaffold file.

*.{vcf.gz.csi,bcf.gz.csi}

map{:bash}

:file

File containing the genetic map in Glimpse format.

*.gmap

Output

name:type
description
pattern

phased_variant{:bash}

meta{:bash}

:map

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

*.{bcf,graph,bh}{:bash}

:file

Phased variant dataset in BCF, GRAPH or XCF binary format.

*.{bcf,graph,bh}

versions{:bash}

versions.yml{:bash}

:file

File containing software versions

versions.yml

Tools

included in
phaseimpute
maintainer
Github user LouisLeNezet
get in touch
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