Description

A set of tools written in Perl and C++ for working with VCF files

Input

Name (Type)
Description
Pattern

meta (map)

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

]

variant_file (file)

variant input file which can be vcf, vcf.gz, or bcf format.

bed (file)

bed file which can be used with different arguments in vcftools (optional)

diff_variant_file (file)

secondary variant file which can be used with the ‘diff’ suite of tools (optional)

Output

Name (Type)
Description
Pattern

meta (map)

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

]

versions (file)

File containing software versions

versions.yml

vcf (file)

vcf file (optional)

*.vcf

bcf (file)

bcf file (optional)

*.bcf

frq (file)

Allele frequency for each site (optional)

*.frq

frq_count (file)

Allele counts for each site (optional)

*.frq.count

idepth (file)

mean depth per individual (optional)

*.idepth

ldepth (file)

depth per site summed across individuals (optional)

*.ildepth

ldepth_mean (file)

mean depth per site calculated across individuals (optional)

*.ldepth.mean

gdepth (file)

depth for each genotype in vcf file (optional)

*.gdepth

hap_ld (file)

r2, D, and D’ statistics using phased haplotypes (optional)

*.hap.ld

geno_ld (file)

squared correlation coefficient between genotypes encoded as 0, 1 and 2 to represent the number of non-reference alleles in each individual (optional)

*.geno.ld

geno_chisq (file)

test for genotype independence via the chi-squared statistic (optional)

*.geno.chisq

list_hap_ld (file)

r2 statistics of the sites contained in the provided input file verses all other sites (optional)

*.list.hap.ld

list_geno_ld (file)

r2 statistics of the sites contained in the provided input file verses all other sites (optional)

*.list.geno.ld

interchrom_hap_ld (file)

r2 statistics for sites (haplotypes) on different chromosomes (optional)

*.interchrom.hap.ld

interchrom_geno_ld (file)

r2 statistics for sites (genotypes) on different chromosomes (optional)

*.interchrom.geno.ld

tstv (file)

Transition / Transversion ratio in bins of size defined in options (optional)

*.TsTv

tstv_summary (file)

Summary of all Transitions and Transversions (optional)

*.TsTv.summary

tstv_count (file)

Transition / Transversion ratio as a function of alternative allele count (optional)

*.TsTv.count

tstv_qual (file)

Transition / Transversion ratio as a function of SNP quality threshold (optional)

*.TsTv.qual

filter_summary (file)

Summary of the number of SNPs and Ts/Tv ratio for each FILTER category (optional)

*.FILTER.summary

sites_pi (file)

Nucleotide divergency on a per-site basis (optional)

*.sites.pi

windowed_pi (file)

Nucleotide diversity in windows, with window size determined by options (optional)

*windowed.pi

weir_fst (file)

Fst estimate from Weir and Cockerham’s 1984 paper (optional)

*.weir.fst

heterozygosity (file)

Heterozygosity on a per-individual basis (optional)

*.het

hwe (file)

Contains the Observed numbers of Homozygotes and Heterozygotes and the corresponding Expected numbers under HWE (optional)

*.hwe

tajima_d (file)

Tajima’s D statistic in bins with size of the specified number in options (optional)

*.Tajima.D

freq_burden (file)

Number of variants within each individual of a specific frequency in options (optional)

*.ifreqburden

lroh (file)

Long Runs of Homozygosity (optional)

*.LROH

relatedness (file)

Relatedness statistic based on the method of Yang et al, Nature Genetics 2010 (doi:10.1038/ng.608) (optional)

*.relatedness

relatedness2 (file)

Relatedness statistic based on the method of Manichaikul et al., BIOINFORMATICS 2010 (doi:10.1093/bioinformatics/btq559) (optional)

*.relatedness2

lqual (file)

per-site SNP quality (optional)

*.lqual

missing_individual (file)

Missingness on a per-individual basis (optional)

*.imiss

missing_site (file)

Missingness on a per-site basis (optional)

*.lmiss

snp_density (file)

Number and density of SNPs in bins of size defined by option (optional)

*.snpden

kept_sites (file)

All sites that have been kept after filtering (optional)

*.kept.sites

removed_sites (file)

All sites that have been removed after filtering (optional)

*.removed.sites

singeltons (file)

Location of singletons, and the individual they occur in (optional)

*.singeltons

indel_hist (file)

Histogram file of the length of all indels (including SNPs) (optional)

*.indel_hist

hapcount (file)

Unique haplotypes within user specified bins (optional)

*.hapcount

mendel (file)

Mendel errors identified in trios (optional)

*.mendel

format (file)

Extracted information from the genotype fields in the VCF file relating to a specfied FORMAT identifier (optional)

*.FORMAT

info (file)

Extracted information from the INFO field in the VCF file (optional)

*.INFO

genotypes_matrix (file)

Genotypes output as large matrix.
Genotypes of each individual on a separate line.
Genotypes are represented as 0, 1 and 2, where the number represent that number of non-reference alleles.
Missing genotypes are represented by -1 (optional)

*.012

genotypes_matrix_individual (file)

Details the individuals included in the main genotypes_matrix file (optional)

*.012.indv

genotypes_matrix_position (file)

Details the site locations included in the main genotypes_matrix file (optional)

*.012.pos

impute_hap (file)

Phased haplotypes in IMPUTE reference-panel format (optional)

*.impute.hap

impute_hap_legend (file)

Impute haplotype legend file (optional)

*.impute.hap.legend

impute_hap_indv (file)

Impute haplotype individuals file (optional)

*.impute.hap.indv

ldhat_sites (file)

Output data in LDhat format, sites (optional)

*.ldhat.sites

ldhat_locs (file)

output data in LDhat format, locations (optional)

*.ldhat.locs

beagle_gl (file)

Genotype likelihoods for biallelic sites (optional)

*.BEAGLE.GL

beagle_pl (file)

Genotype likelihoods for biallelic sites (optional)

*.BEAGLE.PL

ped (file)

output the genotype data in PLINK PED format (optional)

*.ped

map_ (file)

output the genotype data in PLINK PED format (optional)

*.map

tped (file)

output the genotype data in PLINK PED format (optional)

*.tped

tfam (file)

output the genotype data in PLINK PED format (optional)

*.tfam

diff_sites_in_files (file)

Sites that are common / unique to each file specified in optional inputs (optional)

*.diff.sites.in.files

diff_indv_in_files (file)

Individuals that are common / unique to each file specified in optional inputs (optional)

*.diff.indv.in.files

diff_sites (file)

Discordance on a site by site basis, specified in optional inputs (optional)

*.diff.sites

diff_indv (file)

Discordance on a individual by individual basis, specified in optional inputs (optional)

*.diff.indv

diff_discd_matrix (file)

Discordance matrix between files specified in optional inputs (optional)

*.diff.discordance.matrix

diff_switch_error (file)

Switch errors found between sites (optional)

*.diff.switch

Tools

vcftools
LGPL

A set of tools written in Perl and C++ for working with VCF files. This package only contains the C++ libraries whereas the package perl-vcftools-vcf contains the perl libraries