Description

Tool to phase rare variants onto a scaffold of common variants (output of phase_common / ligate). Require feature AVX2.

Input

name:type
description
pattern

meta

:map

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

input

:file

Genotypes to be phased in plain VCF/BCF format.

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

input_index

:file

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

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

pedigree

:file

Pedigree information in the following format: offspring father mother.

*.{txt, tsv}

input_region

:string

Region to be considered in –input-plain (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

scaffold

:file

Scaffold of haplotypes in VCF/BCF format.

*.{vcf.gz,bcf.gz}

scaffold_index

:file

Index file of the scaffold file.

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

scaffold_region

:string

Region to be considered in –scaffold (e.g. chr20:1000000-2000000 or chr20).

chrXX:leftBufferPosition-rightBufferPosition

map

:file

File containing the genetic map in Glimpse format.

*.gmap

output_suffix

:string

Module output format

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

Output

name:type
description
pattern

phased_variant

meta

:map

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

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

:file

Phased variants in VCF/BCF format.

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

versions_shapeit5

${task.process}

:string

The name of the process

shapeit5

:string

The name of the tool

SHAPEIT5_phase_rare | sed "5!d;s/^.*Version *: //; s/ .*$//"

:eval

The expression to obtain the version of the tool

Topics

name:type
description
pattern

versions

${task.process}

:string

The name of the process

shapeit5

:string

The name of the tool

SHAPEIT5_phase_rare | sed "5!d;s/^.*Version *: //; s/ .*$//"

:eval

The expression to obtain the version of the tool

Tools

shapeit5
MIT

Fast and accurate method for estimation of haplotypes (phasing)