nf-core/glimpse2/concordance @ 0.0.0-6c4ed3a
Summary
Program to compute the genotyping error rate at the sample or marker level.
Get started
Add the following snippet to your workflow script to include this module.
include { GLIMPSE2_CONCORDANCE } from 'nf-core/glimpse2/concordance'
License
MIT License
Name
|
GLIMPSE2_CONCORDANCE |
|---|
meta
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
estimate
file
|
Imputed dataset file obtain after phasing. *.{vcf,bcf,vcf.gz,bcf.gz}
|
estimate_index
file
|
Index file for the imputed dataset file. |
truth
file
|
Validation dataset called at the same positions as the imputed file. *.{vcf,bcf,vcf.gz,bcf.gz}
|
truth_index
file
|
Index file for the truth file. |
freq
file
|
File containing allele frequencies at each site. *.{vcf,bcf,vcf.gz,bcf.gz}
|
freq_index
file
|
Index file for the allele frequencies file. |
samples
file
|
List of samples to process, one sample ID per line. *.{txt,tsv}
|
region
string
|
Target region used for imputation, including left and right buffers (e.g. chr20:1000000-2000000). Can also be a list of such regions. chrXX:leftBufferPosition-rightBufferPosition
|
meta2
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
groups
file
|
Alternative to frequency bins, group bins are user defined, provided in a file. *.{txt,tsv}
|
bins
string
|
Allele frequency bins used for rsquared computations. By default they should as MAF bins [0-0.5], while they should take the full range [0-1] if --use-ref-alt is used. 0 0.01 0.05 ... 0.5
|
ac_bins
string
|
User-defined allele count bins used for rsquared computations. 1 2 5 10 20 ... 100000
|
allele_counts
string
|
Default allele count bins used for rsquared computations. AN field must be defined in the frequency file. |
min_val_gl
float
|
Minimum genotype likelihood probability P(G|R) in validation data. Set to zero to have no filter of if using –gt-validation |
min_val_dp
integer
|
Minimum coverage in validation data. If FORMAT/DP is missing and –min_val_dp > 0, the program exits with an error. Set to zero to have no filter of if using –gt-validation |
errors_cal
tuple
meta
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
*.error.cal.txt.gz
file
|
Calibration correlation errors between imputed dosages (in MAF bins) and highly-confident genotype. *.errors.cal.txt.gz
|
errors_grp
tuple
meta
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
*.error.grp.txt.gz
file
|
Groups correlation errors between imputed dosages (in MAF bins) and highly-confident genotype. *.errors.grp.txt.gz
|
errors_spl
tuple
meta
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
*.error.spl.txt.gz
file
|
Samples correlation errors between imputed dosages (in MAF bins) and highly-confident genotype. *.errors.spl.txt.gz
|
rsquare_grp
tuple
meta
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
*.rsquare.grp.txt.gz
file
|
Groups r-squared correlation between imputed dosages (in MAF bins) and highly-confident genotype. *.rsquare.grp.txt.gz
|
rsquare_spl
tuple
meta
map
|
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
|---|---|
*.rsquare.spl.txt.gz
file
|
Samples r-squared correlation between imputed dosages (in MAF bins) and highly-confid |