Predicting functional effect of missense variants using graph attention neural networks

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Highly accurate and robust protein sequence design with CarbonDesignPreprint

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AlphaCluster: Coevolutionary driven residue-residue interaction models enable quantifiable clustering analysis of de novo variants to enhance predictions of pathogenicityPreprint

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The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction ToolsPreprint

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AlphaCluster: Coevolutionary driven residue-residue interaction models enable quantifiable clustering analysis of de novo variants to enhance predictions of pathogenicityPreprint

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PMMVar: Leveraging Multi-level Protein Structures for Enhanced Coding Variant Pathogenicity Prediction

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Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictorsPreprint

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A Collaborative Approach to Improving Missense Mutational Effect Predictions in OncoproteinsPreprint

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Comparative analysis of predictive factors for variant pathogenicity in epilepsy research: A study based on the predictive gene-specific random forest (GRF) model

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PATHOS: Predicting Variant Pathogenicity by Combining Protein Language Models and Biological FeaturesPreprint

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The Blobulator: A Toolkit for Identification and Visual Exploration of Hydrophobic Modularity in Protein Sequences

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MVmamba Deciphers Missense Variant Pathogenicity via Enhanced Bi-Mamba and Structure-Informed Protein Language Model

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Ipvar: Advancing Pathogenicity Prediction Via Hierarchical Fusion of Structure Foundation Models Alphafold 3 and Esm C

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VarDCL: A Multimodal PLM-Enhanced Framework for Missense Variant Effect Prediction via Self-distilled Contrastive LearningPreprint

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Disagreement among variant effect predictors guides experimental prioritization of target proteinsPreprint

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Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools

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G-SPRI: A Structure-Centric Graph Model for Comprehensive Prediction of Cancer Driver Events from Missense MutationsPreprint

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Deep knowledge-driven multi-modal fusion for diagnosis and prognosis of SI-ARDS

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HiFuseVEP: Hierarchical Fusion of Multi-source Protein Language Model Embeddings for Missense Variant Effect Prediction

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Gene identity, not variant effect, dominates ClinVar benchmarks of missense pathogenicity predictorsPreprint

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