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
Here are 3 public repositories matching this topic...
AI-powered pipeline for prioritizing genetic mutations using deep learning (LSTM, CNN) and bioinformatics scoring (BLOSUM62, Grantham). Automates mutation impact analysis for genomics research.
machine-learning bioinformatics deep-learning genomics artificial-intelligence sequence-analysis pathogenicity-prediction genetic-mutation
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Sep 25, 2025 - Jupyter Notebook
Benchmarking AlphaMissense on PIEZO1 Variants
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Jun 11, 2025 - Python
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