Automated ACMG/AMP classification for human variants associated with congenital hearing loss
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Updated
May 9, 2023 - Python
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
Var3PPred: Variant prediction based on 3-D structure and sequence analyses of protein-protein interactions on Autoinflammatory Disease
Plot AlphaFold2-based pathogenicity prediction scores for a particular gene and suggest a gene-specific threshold for separating pathogenic from benign variants.
A tool that parses VKGL variant classification data from public releases, connects variants across time and provides insights by visualizing different aspects.
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