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