AIMC Topic: Mutation

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ETLD: an encoder-transformation layer-decoder architecture for protein contact and mutation effects prediction.

Briefings in bioinformatics Sep 20, 2023
The latent features extracted from the multiple sequence alignments (MSAs) of homologous protein families are useful for identifying residue-residue contacts, predicting mutation effects, shaping protein evolution, etc. Over the past three decades, a...
Neural Networks, Computer Mutation Amino Acids Proteins Unsupervised Machine Learning
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Deep learning-based activity recognition and fine motor identification using 2D skeletons of cynomolgus monkeys.

Zoological research Sep 18, 2023
Video-based action recognition is becoming a vital tool in clinical research and neuroscientific study for disorder detection and prediction. However, action recognition currently used in non-human primate (NHP) research relies heavily on intense man...
Animals Skeleton Phenotype Mutation Deep Learning Macaca fascicularis
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Learning protein fitness landscapes with deep mutational scanning data from multiple sources.

Cell systems Aug 16, 2023
One of the key points of machine learning-assisted directed evolution (MLDE) is the accurate learning of the fitness landscape, a conceptual mapping from sequence variants to the desired function. Here, we describe a multi-protein training scheme tha...
Machine Learning Peer Review Mutation
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DDMut: predicting effects of mutations on protein stability using deep learning.

Nucleic acids research Jul 5, 2023
Understanding the effects of mutations on protein stability is crucial for variant interpretation and prioritisation, protein engineering, and biotechnology. Despite significant efforts, community assessments of predictive tools have highlighted ongo...
Mutation Protein Stability Point Mutation Deep Learning Proteins Software
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DeepAlloDriver: a deep learning-based strategy to predict cancer driver mutations.

Nucleic acids research Jul 5, 2023
Driver mutations can contribute to the initial processes of cancer, and their identification is crucial for understanding tumorigenesis as well as for molecular drug discovery and development. Allostery regulates protein function away from the functi...
Deep Learning Mice Neoplasms Mutation Allosteric Site Proteins Carcinogenesis Animals Allosteric Regulation
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Mutate and observe: utilizing deep neural networks to investigate the impact of mutations on translation initiation.

Bioinformatics (Oxford, England) Jun 1, 2023
MOTIVATION: The primary regulatory step for protein synthesis is translation initiation, which makes it one of the fundamental steps in the central dogma of molecular biology. In recent years, a number of approaches relying on deep neural networks (D...
Humans Neural Networks, Computer Mutation
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Recent application of artificial intelligence on histopathologic image-based prediction of gene mutation in solid cancers.

Briefings in bioinformatics May 19, 2023
PURPOSE: Evaluation of genetic mutations in cancers is important because distinct mutational profiles help determine individualized drug therapy. However, molecular analyses are not routinely performed in all cancers because they are expensive, time-...
Mutation Benchmarking Databases, Factual Humans Artificial Intelligence Thyroid Neoplasms
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Predicting the pathogenicity of missense variants using features derived from AlphaFold2.

Bioinformatics (Oxford, England) May 4, 2023
MOTIVATION: Missense variants are a frequent class of variation within the coding genome, and some of them cause Mendelian diseases. Despite advances in computational prediction, classifying missense variants into pathogenic or benign remains a major...
Humans Artificial Intelligence Mutation, Missense Computational Biology Mutation Virulence
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Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach.

Brain : a journal of neurology Apr 19, 2023
Phospholipase C (PLC) is an essential isozyme involved in the phosphoinositide signalling pathway, which maintains cellular homeostasis. Gain- and loss-of-function mutations in PLC affect enzymatic activity and are therefore associated with several d...
Humans Mutation Phosphatidylinositols Phosphoinositide Phospholipase C Deep Learning Brain Diseases Type C Phospholipases
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AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning.

Briefings in bioinformatics Mar 19, 2023
Alzheimer's disease (AD) is one of the most challenging neurodegenerative diseases because of its complicated and progressive mechanisms, and multiple risk factors. Increasing research evidence demonstrates that genetics may be a key factor responsib...
Magnetic Resonance Imaging Mutation Alzheimer Disease Deep Learning Humans Cognitive Dysfunction
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