AIMC Topic: Mutation

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Deep learning based on biologically interpretable genome representation predicts two types of human adaptation of SARS-CoV-2 variants.

Briefings in bioinformatics May 13, 2022
Explosively emerging SARS-CoV-2 variants challenge current nomenclature schemes based on genetic diversity and biological significance. Genomic composition-based machine learning methods have recently performed well in identifying phenotype-genotype ...
Humans Child Spike Glycoprotein, Coronavirus Mutation COVID-19 SARS-CoV-2 Deep Learning
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fastISM: performant in silico saturation mutagenesis for convolutional neural networks.

Bioinformatics (Oxford, England) Apr 28, 2022
MOTIVATION: Deep-learning models, such as convolutional neural networks, are able to accurately map biological sequences to associated functional readouts and properties by learning predictive de novo representations. In silico saturation mutagenesis...
Mutation Mutagenesis Neural Networks, Computer
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Improving the noninvasive classification of glioma genetic subtype with deep learning and diffusion-weighted imaging.

Neuro-oncology Apr 1, 2022
BACKGROUND: Diagnostic classification of diffuse gliomas now requires an assessment of molecular features, often including IDH-mutation and 1p19q-codeletion status. Because genetic testing requires an invasive process, an alternative noninvasive appr...
Isocitrate Dehydrogenase Diffusion Magnetic Resonance Imaging Magnetic Resonance Imaging Mutation Humans Brain Neoplasms Deep Learning Glioma
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Universal encoding of pan-cancer histology by deep texture representations.

Cell reports Mar 1, 2022
Cancer histological images contain rich biological and clinical information, but quantitative representation can be problematic and has prevented the direct comparison and accumulation of large-scale datasets. Here, we show successful universal encod...
Humans Genomics Mutation Neural Networks, Computer Neoplasms
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Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion.

Briefings in bioinformatics Jan 17, 2022
More than 6000 human diseases have been recorded to be caused by non-synonymous single nucleotide polymorphisms (nsSNPs). Rapid and accurate prediction of pathogenic nsSNPs can improve our understanding of the principle and design of new drugs, which...
Computational Biology Area Under Curve Mutation Pharmaceutical Preparations Disease Cellular Microenvironment Algorithms Deep Learning Polymorphism, Single Nucleotide Humans
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Computational Approaches for Investigating Disease-causing Mutations in Membrane Proteins: Database Development, Analysis and Prediction.

Current topics in medicinal chemistry Jan 1, 2022
Membrane proteins (MPs) play an essential role in a broad range of cellular functions, serving as transporters, enzymes, receptors, and communicators, and about ~60% of membrane proteins are primarily used as drug targets. These proteins adopt either...
Protein Conformation, alpha-Helical Machine Learning Humans Databases, Factual Computational Biology Membrane Proteins Databases, Protein Mutation
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Impact of Cystic Fibrosis Transmembrane Conductance Regulator Therapy on Chronic Rhinosinusitis and Health Status: Deep Learning CT Analysis and Patient-reported Outcomes.

Annals of the American Thoracic Society Jan 1, 2022
Elexacaftor, tezacaftor, and ivacaftor (ETI) in triple combination improves pulmonary health for people with cystic fibrosis (PwCF). However, its impact on objective measures of sinus disease and health utility is unestablished. To evaluate the imp...
Tomography, X-Ray Computed Adult Quality of Life Humans Prospective Studies Aminophenols Cystic Fibrosis Transmembrane Conductance Regulator Deep Learning Mutation Patient Reported Outcome Measures
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Clinical insights into hematologic malignancies and comparative analysis of molecular signatures of acute myeloid leukemia in different ethnicities using an artificial intelligence offering.

Medicine Dec 23, 2021
Next generation sequencing generates copious amounts of genomics data, causing manual interpretation to be laborious and non-scalable while remaining subjective (even for highly trained specialists). We evaluated the performance of the artificial int...
Leukemia, Myeloid, Acute Male Middle Aged Adolescent Protein-Tyrosine Kinases Prognosis Mutation Off-Label Use Republic of Korea fms-Like Tyrosine Kinase 3 Aged Young Adult Female Aged, 80 and over Pharmaceutical Preparations Adult Humans Hematologic Neoplasms Ethnicity Artificial Intelligence
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Prediction of genetic alterations from gastric cancer histopathology images using a fully automated deep learning approach.

World journal of gastroenterology Nov 28, 2021
BACKGROUND: Studies correlating specific genetic mutations and treatment response are ongoing to establish an effective treatment strategy for gastric cancer (GC). To facilitate this research, a cost- and time-effective method to analyze the mutation...
Deep Learning Humans Genes, p53 Staining and Labeling Stomach Neoplasms Mutation
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Machine learning integrates genomic signatures for subclassification beyond primary and secondary acute myeloid leukemia.

Blood Nov 11, 2021
Although genomic alterations drive the pathogenesis of acute myeloid leukemia (AML), traditional classifications are largely based on morphology, and prototypic genetic founder lesions define only a small proportion of AML patients. The historical su...
Neoplasms, Second Primary Humans Cytogenetics Gene Expression Regulation, Leukemic Machine Learning Bayes Theorem Translocation, Genetic Leukemia, Myeloid, Acute Mutation Genomics
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