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nf-core/peddy @ 0.0.0-6c4ed3a

Manipulation, validation and exploration of pedigrees

Latest version: 0.0.0-6c4ed3a
Total downloads: 5
Source: nf-core/modules
Authors: @rannick
Maintainers: @rannick

Summary

Manipulation, validation and exploration of pedigrees

Get started

Add the following snippet to your workflow script to include this module.

include { PEDDY } from 'nf-core/peddy'

License

MIT License

Process
Name PEDDY
Input 3 channels
#1 tuple
meta map

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

vcf file

VCF file

*.vcf.gz
vcf_tbi file

TBI file

*.vcf.gz.tbi
#2 tuple
meta2 map

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

ped file

PED/FAM file

*.{ped,fam}
#3 tuple
meta3 map

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

sites file

sites file. By defaults peddy uses hg19/GRCh37, "--sites hg38" can be specified in the process argument or a custom file following syntax https://github.com/brentp/peddy/blob/master/peddy/GRCH37.sites can be provided

*.sites
Output 11 channels
#1 ped tuple
meta map

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

${prefix}.peddy.ped file

Inferred PED file

*.peddy.ped
#2 html tuple
meta map

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

${prefix}.html file

HTML report

*.html
#3 vs_html tuple
meta map

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

${prefix}.vs.html file

HTML file comparison between reported and inferred sex

*.vs.html
#4 het_check_csv tuple
meta map

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

${prefix}.het_check.csv file

CSV file containing heterozygosity check. Rate of het calls, allele-balance at het calls, mean and median depth, and a PCA projection onto thousand genomes.

*.het_check.csv
#5 het_check_png tuple
meta map

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

${prefix}.het_check.png file

PNG file containing heterozygosity check. Rate of het calls, allele-balance at het calls, mean and median depth, and a PCA projection onto thousand genomes.

*.het_check.png
#6 ped_check_csv tuple
meta map

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

${prefix}.ped_check.csv file

CSV file containing pedigree check between reported and inferred sex

*.het_check.csv
#7 ped_check_png tuple
meta map

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

${prefix}.ped_check.png file

PNG file containing pedigree check between reported and inferred sex

*.het_check.png
#8 sex_check_csv tuple
meta map

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

${prefix}.sex_check.csv file

CSV file with sex check performs a comparison between the sex reported in the ped file and that inferred from the genotypes on the non-PAR regions of the X chromosome.

*.sex_check.csv
#9 sex_check_png tuple
meta map

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

${prefix}.sex_check.png