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.
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feat: use MANE+clinical for selecting representative transcripts #235
Instead of using the "canonical" annotation to select a representative transcript, we now use MANE + clinical. This is better as it is designed to include all transcripts with pathogenic variants (therefore being of clinical relevance).
Also see https://www.ncbi.nlm.nih.gov/refseq/MANE/
Instead of using the "canonical" annotation to select a representative transcript, we now use MANE + clinical. This is better as it is designed to include all transcripts with pathogenic variants (therefore being of clinical relevance). Also see https://www.ncbi.nlm.nih.gov/refseq/MANE/