My name is Elias and I work in the Genetics Department at Baylor
College of Medicine. I created an add on function to the Hail program
that can process WGS/WES VCF files for De novo variants in a
build-agnostic, pedigree-free manner for SNV calls. I have tested it
at cohort scale and processed 2000 family quad files with one Slurm
script using the function.
I will be publishing these methods and results but thought I would
reach out to see if there was any interest in incorporating this tool
into Hail itself.
Best
Elias