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Mutation

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Systematic characterization of mutations altering protein degradation in human cancers.

Molecular cell
The ubiquitin-proteasome system (UPS) is the primary route for selective protein degradation in human cells. The UPS is an attractive target for novel cancer therapies, but the precise UPS genes and substrates important for cancer growth are incomple...

Combined Spiral Transformation and Model-Driven Multi-Modal Deep Learning Scheme for Automatic Prediction of TP53 Mutation in Pancreatic Cancer.

IEEE transactions on medical imaging
Pancreatic cancer is a malignant form of cancer with one of the worst prognoses. The poor prognosis and resistance to therapeutic modalities have been linked to TP53 mutation. Pathological examinations, such as biopsies, cannot be frequently performe...

Bringing Structural Implications and Deep Learning-Based Drug Identification for Mutants.

Journal of chemical information and modeling
Colorectal cancer is considered one of the leading causes of death that is linked with the Kirsten Rat Sarcoma () harboring codons 13 and 61 mutations. The objective for this study is to search for clinically important codon 61 mutations and analyze ...

Supervised mutational signatures for obesity and other tissue-specific etiological factors in cancer.

eLife
Determining the etiologic basis of the mutations that are responsible for cancer is one of the fundamental challenges in modern cancer research. Different mutational processes induce different types of DNA mutations, providing 'mutational signatures'...

Qualitative and Quantitative MRI Analysis in IDH1 Genotype Prediction of Lower-Grade Gliomas: A Machine Learning Approach.

BioMed research international
PURPOSE: Preoperative prediction of isocitrate dehydrogenase 1 (IDH1) mutation in lower-grade gliomas (LGGs) is crucial for clinical decision-making. This study aimed to examine the predictive value of a machine learning approach using qualitative an...

Modeling autosomal dominant Alzheimer's disease with machine learning.

Alzheimer's & dementia : the journal of the Alzheimer's Association
INTRODUCTION: Machine learning models were used to discover novel disease trajectories for autosomal dominant Alzheimer's disease.

ELASPIC2 (EL2): Combining Contextualized Language Models and Graph Neural Networks to Predict Effects of Mutations.

Journal of molecular biology
The ELASPIC web server allows users to evaluate the effect of mutations on protein folding and protein-protein interaction on a proteome-wide scale. It uses homology models of proteins and protein-protein interactions, which have been precalculated f...

Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers.

Circulation. Arrhythmia and electrophysiology
BACKGROUND: ECG interpretation requires expertise and is mostly based on physician recognition of specific patterns, which may be challenging in rare cardiac diseases. Deep neural networks (DNNs) can discover complex features in ECGs and may facilita...

Artificial intelligence predicts the immunogenic landscape of SARS-CoV-2 leading to universal blueprints for vaccine designs.

Scientific reports
The global population is at present suffering from a pandemic of Coronavirus disease 2019 (COVID-19), caused by the novel coronavirus Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). The goal of this study was to use artificial intellige...