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
A CLI-operated bioinformatics platform for gene variant pathogenicity screening and computational gene therapy candidate identification. Integrates an AI interpreter to generate biologically grounded hypotheses based on PRISM result data, and proposes experimental follow-ups. Includes project system file navigation + accession for workflow ease.
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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