A Snakemake workflow for calling small and structural variants under any kind of scenario (tumor/normal, tumor/normal/relapse, germline, pedigree, populations) via the unified statistical model of Varlociraptor.
For annotation AlphaMissense scores with VEP scores need to be downloaded and index first.
This has been a manual step before.
To improve this further scores are now download from Zenodo for hg38 and hg19.
For annotation AlphaMissense scores with VEP scores need to be downloaded and index first. This has been a manual step before. To improve this further scores are now download from Zenodo for hg38 and hg19.