AIMC Topic: Mutation

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Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.

Communications biology
Advances in genomic medicine accelerate the identification of mutations in disease-associated genes, but the pathogenicity of many mutations remains unknown, hindering their use in diagnostics and clinical decision-making. Predictive AI models are ge...

Clustering cell nuclei on microgrooves for disease diagnosis using deep learning.

Scientific reports
Various diseases including laminopathies and certain types of cancer are associated with abnormal nuclear mechanical properties that influence cellular and nuclear deformations in complex environments. Recently, microgroove substrates designed to mim...

Can mutation abundance assess the biological behavior of BRAF-positive papillary thyroid carcinoma?

Journal of translational medicine
BACKGROUND: BRAF mutation is the most common genetic change in papillary thyroid carcinoma (PTC). Nevertheless, the association between BRAF mutation status and abundance and the biological behavior of PTC is unclear. Thus, this study investigated wh...

Unusual Morphologic Presentation of Perineural Spread From Cutaneous Squamous Cell Carcinoma: Diagnosis Aided by Comprehensive Molecular Analysis and Machine Learning.

Journal of cutaneous pathology
Neoplasms of unknown primary frequently pose a diagnostic challenge due to their nonspecific morphological and immunohistochemical features. Definitive classification of these neoplasms has a profound impact on treatment decisions. Mutational and gen...

Iterative enhancement of cutinase thermostability by multiple strategies based on combined directed evolution and computationally assisted design.

Bioresource technology
Cutinase exhibits versatile biocatalytic potential in polymer degradation, textile processing, and industrial biocatalysis, where enhancing the thermal stability under extreme conditions is essential for practical applications. To enhance the thermal...

Learning multi-regularized mutation-aware correlation filter for object tracking via an adaptive hybrid model.

Neural networks : the official journal of the International Neural Network Society
Discriminative Correlation Filters (DCF) have emerged as a popular and effective approach in object tracking. With promising performance and efficiency, DCF-based trackers achieved impressive attention and reliable tracking results in several challen...

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.

JCO precision oncology
PURPOSE: Fibroblast growth factor receptors (FGFRs; FGFR1, FGFR2, FGFR3, FGFR4) are frequently mutated oncogenes in solid cancers. The oncogenic potential of FGFR rearrangements and few hotspot point mutations is well established, but the majority of...

Massively parallel genetic perturbation suggests the energetic structure of an amyloid-β transition state.

Science advances
Amyloid aggregates are pathological hallmarks of many human diseases, but how soluble proteins nucleate to form amyloids is poorly understood. Here, we use combinatorial mutagenesis, a kinetic selection assay, and machine learning to massively pertur...

MFDSMC: Accurate Identification of Cancer-Driver Synonymous Mutations Using Multiperspective Feature Representation Learning.

Journal of chemical information and modeling
Synonymous mutations do not change amino acid sequences, but they can drive cancer by influencing splicing, mRNA structure, translation efficiency, and other molecular mechanisms. Although driver synonymous mutations are significantly outnumbered by ...

A radiogenomics study on F-FDG PET/CT in endometrial cancer by a novel deep learning segmentation algorithm.

BMC cancer
OBJECTIVE: To create an automated PET/CT segmentation method and radiomics model to forecast Mismatch repair (MMR) and TP53 gene expression in endometrial cancer patients, and to examine the effect of gene expression variability on image texture feat...