nf-core / raredisease

Call and score variants from WGS/WES of rare disease patients.
https://nf-co.re/raredisease
MIT License
87 stars 34 forks source link

Add default support for haploid variant calls #596

Closed jemten closed 2 months ago

jemten commented 2 months ago

Description of feature

Deepvariant version 1.6.1 has support for haploid calls on the X and Y chromosome for males, https://github.com/google/deepvariant/blob/r1.6.1/docs/deepvariant-haploid-support.md.

We could add the PAR region file as an optional input to be passed to the module and update the config for deepvariant to by default include the --haploid_contigs parameter for males.

Could something like this:

        ext.args = { [
            "--model_type=${params.analysis_type.toUpperCase()}",
            (meta.sex == 1 ) ? ( (params.genome == 'GRCh37') ? '--haploid_contigs="X,Y"' : '--haploid_contigs="chrX,chrY"' ) ) : ''
        ].join(' ')}

I'm sure that there is a more elegant way of doing it 😆

fellen31 commented 2 months ago

I forgot to add --par_regions_bed with the 1.6.1 module update, (added in https://github.com/nf-core/modules/pull/6022 yesterday), so the module in raredisease needs to be updated again.

ramprasadn commented 2 months ago

Added in https://github.com/nf-core/raredisease/pull/598