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Mutation

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NN-RNALoc: Neural network-based model for prediction of mRNA sub-cellular localization using distance-based sub-sequence profiles.

PloS one
The localization of messenger RNAs (mRNAs) is a frequently observed phenomenon and a crucial aspect of gene expression regulation. It is also a mechanism for targeting proteins to a specific cellular region. Moreover, prior research and studies have ...

ProS-GNN: Predicting effects of mutations on protein stability using graph neural networks.

Computational biology and chemistry
Predicting protein stability change upon variation through a computational approach is a valuable tool to unveil the mechanisms of mutation-induced drug failure and develop immunotherapy strategies. Some previous machine learning-based techniques exh...

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

EBioMedicine
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...

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
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...

A novel MRI-based deep learning networks combined with attention mechanism for predicting CDKN2A/B homozygous deletion status in IDH-mutant astrocytoma.

European radiology
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.

Cross-protein transfer learning substantially improves disease variant prediction.

Genome biology
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...

Towards in silico CLIP-seq: predicting protein-RNA interaction via sequence-to-signal learning.

Genome biology
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...

AIVariant: a deep learning-based somatic variant detector for highly contaminated tumor samples.

Experimental & molecular medicine
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...

A CT-based Deep Learning Radiomics Nomogram for the Prediction of EGFR Mutation Status in Head and Neck Squamous Cell Carcinoma.

Academic radiology
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...

Topological deep learning based deep mutational scanning.

Computers in biology and medicine
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...