AIMC Topic: Mutation

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Intratumoral Resolution of Driver Gene Mutation Heterogeneity in Renal Cancer Using Deep Learning.

Cancer research
UNLABELLED: Intratumoral heterogeneity arising from tumor evolution poses significant challenges biologically and clinically. Dissecting this complexity may benefit from deep learning (DL) algorithms, which can infer molecular features from ubiquitou...

EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants.

Nucleic acids research
Discovering rare cancer driver genes is difficult because their mutational frequency is too low for statistical detection by computational methods. EPIMUTESTR is an integrative nearest-neighbor machine learning algorithm that identifies such marginal...

Artificial Intelligence-Assisted Serial Analysis of Clinical Cancer Genomics Data Identifies Changing Treatment Recommendations and Therapeutic Targets.

Clinical cancer research : an official journal of the American Association for Cancer Research
PURPOSE: Given the pace of predictive biomarker and targeted therapy development, it is unknown whether repeat annotation of the same next-generation sequencing data can identify additional clinically actionable targets that could be therapeutically ...

SPLDExtraTrees: robust machine learning approach for predicting kinase inhibitor resistance.

Briefings in bioinformatics
Drug resistance is a major threat to the global health and a significant concern throughout the clinical treatment of diseases and drug development. The mutation in proteins that is related to drug binding is a common cause for adaptive drug resistan...

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

Briefings in bioinformatics
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 ...

fastISM: performant in silico saturation mutagenesis for convolutional neural networks.

Bioinformatics (Oxford, England)
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...

Improving the noninvasive classification of glioma genetic subtype with deep learning and diffusion-weighted imaging.

Neuro-oncology
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...

Universal encoding of pan-cancer histology by deep texture representations.

Cell reports
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...

Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion.

Briefings in bioinformatics
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 Approaches for Investigating Disease-causing Mutations in Membrane Proteins: Database Development, Analysis and Prediction.

Current topics in medicinal chemistry
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...