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nf-core/glimpse/concordance @ 0.0.0-6c4ed3a

Compute the r2 correlation between imputed dosages (in MAF bins) and highly-confident genotype calls from the high-coverage dataset.

Latest version: 0.0.0-6c4ed3a
Total downloads: 12
Source: nf-core/modules
Authors: @louislenezet
Maintainers: @louislenezet

Summary

Compute the r2 correlation between imputed dosages (in MAF bins) and highly-confident genotype calls from the high-coverage dataset.

Get started

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

include { GLIMPSE_CONCORDANCE } from 'nf-core/glimpse/concordance'

License

MIT License

Process
Name GLIMPSE_CONCORDANCE
Input 4 channels
#1 tuple
meta map

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

estimate file

Imputed data.

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

Index file for the imputed data.

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.

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.

region string

Target region used for imputation, including left and right buffers (e.g. chr20:1000000-2000000).

chrXX:leftBufferPosition-rightBufferPosition
min_prob float

Minimum posterior probability P(G|R) in validation data

min_dp integer

Minimum coverage in validation data. If FORMAT/DP is missing and --minDP > 0, the program exits with an error.

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.

Output 6 channels
#1 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
#2 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
#3 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
#4 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
#5 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-confident genotype.

*.rsquare.spl.txt.gz
#6 versions_glimpse tuple
${task.process} string

The name of the process

glimpse string

The name of the tool

GLIMPSE_concordance --help | sed -n '/Version/s/.*: //p' eval

The expression to obtain the version of the tool

Tool Description Homepage
glimpse GLIMPSE is a phasing and imputation method for large-scale low-coverage sequencing studies. https://odelaneau.github.io/GLIMPSE
Version 0.0.0-6c4ed3a