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pathogenicity x

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Characterization of Germline variants

Classifycnv ⭐ 43

ClassifyCNV: a tool for clinical annotation of copy-number variants

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

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