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sk Skill · ClawBio

cnv-acmg-classifier

Classify structural variants / copy-number variants (deletions and duplications) using the ClinGen / ACMG 2019 (Riggs et al. 2020) point framework and return a five-tier classification with a per-section evidence trail. Germline CNV interpretation, not SNV/indel.

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markdownbashPythondosage-sensitivityclingenacmgstructural-variantcnv
Host repository
ClawBio/ClawBio
Version
0.1.0
Licence
MIT
Host stars
1,140
Host language
Python