An accurate pipeline for predicting the pathogenicity of human exon structural variants
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Jul 30, 2023 - Perl
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pathogenicity-prediction
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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.
bioinformatics genetics command-line-tool algorithm-design pathogenicity-prediction pathogenicity-classification
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Dec 27, 2025 - Python
Benchmarking AlphaMissense on PIEZO1 Variants
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Jun 11, 2025 - Python
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