Description

STITCH is an R program for reference panel free, read aware, low coverage sequencing genotype imputation. STITCH runs on a set of samples with sequencing reads in BAM format, as well as a list of positions to genotype, and outputs imputed genotypes in VCF format.

Input

name:type
description
pattern

meta:map

Groovy Map containing information about the set of positions to run the imputation over e.g. [ id:'test' ]

posfile:file

Tab-separated file describing the variable positions to be used for imputation. Refer to the documentation for the --posfile argument of STITCH for more information.

*.tsv

input:directory

Folder of pre-generated input RData objects used when STITCH is called with the --regenerateInput FALSE flag. It is generated by running STITCH with the --generateInputOnly TRUE flag.

input

rdata:directory

Folder of pre-generated input RData objects used when STITCH is called with the --regenerateInput FALSE flag. It is generated by running STITCH with the --generateInputOnly TRUE flag.

RData

chromosome_name:string

Name of the chromosome to impute. Should match a chromosome name in the reference genome.

K:integer

Number of ancestral haplotypes to use for imputation. Refer to the documentation for the --K argument of STITCH for more information.

nGen:integer

Number of generations since founding of the population to use for imputation. Refer to the documentation for the --nGen argument of STITCH for more information.

meta2:map

Groovy Map containing information about the set of samples e.g. [ id:'test' ]

collected_crams:file

List of sorted BAM/CRAM/SAM file

*.{bam,cram,sam}

collected_crais:file

List of BAM/CRAM/SAM index files

*.{bai,crai,sai}

cramlist:file

Text file with the path to the cram files to use in imputation, one per line. Since the cram files are staged to the working directory for the process, this file should just contain the file names without any pre-pending path.

*.txt

meta3:map

Groovy Map containing information about the reference genome used e.g. [ id:'test' ]

fasta:file

FASTA reference genome file

*.{fa,fasta}

fasta_fai:file

FASTA index file

*.{fai}

seed:integer

Seed for random number generation

Output

name:type
description
pattern

input

meta:map

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

input", type: "dir:directory

Folder of pre-generated input RData objects used when STITCH is called with the --regenerateInput FALSE flag. It is generated by running STITCH with the --generateInputOnly TRUE flag.

input

rdata

meta:map

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

RData", type: "dir:directory

Folder of pre-generated input RData objects used when STITCH is called with the --regenerateInput FALSE flag. It is generated by running STITCH with the --generateInputOnly TRUE flag.

RData

plots

meta:map

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

plots", type: "dir:directory

Folder containing plots produced by STITCH during imputation. Which plots are produced depends on the command-line arguments passed to STITCH.

plots

vcf

meta:map

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

*.vcf.gz:file

Imputed genotype calls for the positions in posfile, in vcf format. This is the default output.

.vcf.gz

bgen

meta:map

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

*.bgen:file

Imputed genotype calls for the positions in posfile, in vcf format. This is the produced if --output_format bgen is specified.

.bgen

versions

versions.yml:file

File containing software versions

versions.yml

Tools

stitch
GPL v3

STITCH - Sequencing To Imputation Through Constructing Haplotypes