AIMC Topic: Mutation

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Discovering the mechanism of action of drugs with a sparse explainable network.

EBioMedicine Aug 24, 2023
BACKGROUND: Although Deep Neural Networks (DDNs) have been successful in predicting the efficacy of cancer drugs, the lack of explainability in their decision-making process is a significant challenge. Previous research proposed mimicking the Gene On...
Humans Mutation Artificial Intelligence Gene Ontology Cell Line Drug Repositioning
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Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc Aug 12, 2023
BRCA1 and BRCA2 genes play a crucial role in repairing DNA double-strand breaks through homologous recombination. Their mutations represent a significant proportion of homologous recombination deficiency and are a reliable effective predictor of sens...
BRCA1 Protein BRCA2 Protein Female Deep Learning Humans Ovarian Neoplasms Mutation Carcinoma, Ovarian Epithelial Poly(ADP-ribose) Polymerase Inhibitors
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A novel MRI-based deep learning networks combined with attention mechanism for predicting CDKN2A/B homozygous deletion status in IDH-mutant astrocytoma.

European radiology Aug 8, 2023
OBJECTIVES: To develop a high-accuracy MRI-based deep learning method for predicting cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) homozygous deletion status in isocitrate dehydrogenase (IDH)-mutant astrocytoma.
Astrocytoma Sequence Deletion Glioma Magnetic Resonance Imaging Cyclin-Dependent Kinase Inhibitor p16 Mutation Isocitrate Dehydrogenase Homozygote Humans Brain Neoplasms Deep Learning
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Cross-protein transfer learning substantially improves disease variant prediction.

Genome biology Aug 7, 2023
BACKGROUND: Genetic variation in the human genome is a major determinant of individual disease risk, but the vast majority of missense variants have unknown etiological effects. Here, we present a robust learning framework for leveraging saturation m...
Humans Machine Learning Computational Biology Mutation, Missense Proteome Mutation Amino Acid Sequence
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Towards in silico CLIP-seq: predicting protein-RNA interaction via sequence-to-signal learning.

Genome biology Aug 4, 2023
We present RBPNet, a novel deep learning method, which predicts CLIP-seq crosslink count distribution from RNA sequence at single-nucleotide resolution. By training on up to a million regions, RBPNet achieves high generalization on eCLIP, iCLIP and m...
Humans Computer Simulation RNA Splice Sites Consensus Sequence Base Sequence Binding Sites Nucleotide Motifs Internet RNA-Binding Proteins RNA, Viral Deep Learning Bias Nucleotides Alleles RNA, Messenger Mutation RNA Datasets as Topic
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AIVariant: a deep learning-based somatic variant detector for highly contaminated tumor samples.

Experimental & molecular medicine Aug 1, 2023
The detection of somatic DNA variants in tumor samples with low tumor purity or sequencing depth remains a daunting challenge despite numerous attempts to address this problem. In this study, we constructed a substantially extended set of actual posi...
Humans Computational Biology Mutation Gene Frequency Algorithms Neoplasms Deep Learning
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A CT-based Deep Learning Radiomics Nomogram for the Prediction of EGFR Mutation Status in Head and Neck Squamous Cell Carcinoma.

Academic radiology Jul 21, 2023
RATIONALE AND OBJECTIVES: Accurately assessing epidermal growth factor receptor (EGFR) mutation status in head and neck squamous cell carcinoma (HNSCC) patients is crucial for prognosis and treatment selection. This study aimed to construct and valid...
Humans Deep Learning Nomograms Squamous Cell Carcinoma of Head and Neck Retrospective Studies Tomography, X-Ray Computed Radiomics ErbB Receptors Head and Neck Neoplasms Mutation
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Topological deep learning based deep mutational scanning.

Computers in biology and medicine Jul 17, 2023
High-throughput deep mutational scanning (DMS) experiments have significantly impacted protein engineering, drug discovery, immunology, cancer biology, and evolutionary biology by enabling the systematic understanding of protein functions. However, t...
Deep Learning Mutation Reproducibility of Results SARS-CoV-2 Humans COVID-19
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Impact of E484Q and L452R Mutations on Structure and Binding Behavior of SARS-CoV-2 B.1.617.1 Using Deep Learning AlphaFold2, Molecular Docking and Dynamics Simulation.

International journal of molecular sciences Jul 17, 2023
During the outbreak of COVID-19, many SARS-CoV-2 variants presented key amino acid mutations that influenced their binding abilities with angiotensin-converting enzyme 2 (hACE2) and neutralizing antibodies. For the B.1.617 lineage, there had been fea...
SARS-CoV-2 Protein Binding Molecular Dynamics Simulation Humans Mutation Molecular Docking Simulation COVID-19 Antibodies, Neutralizing Deep Learning
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High accuracy epidermal growth factor receptor mutation prediction via histopathological deep learning.

BMC pulmonary medicine Jul 5, 2023
BACKGROUND: The detection of epidermal growth factor receptor (EGFR) mutations in patients with non-small cell lung cancer is critical for tyrosine kinase inhibitor therapy. EGFR detection requires tissue samples, which are difficult to obtain in som...
Lung Neoplasms Adenocarcinoma Carcinoma, Non-Small-Cell Lung Mutation ErbB Receptors Humans Deep Learning
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