AIMC Topic: Mutation

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Digital/Computational Technology for Molecular Cytology Testing: A Short Technical Note with Literature Review.

Acta cytologica
This short article describes the method of digital cytopathology using Z-stack scanning with or without extended focusing. This technology is suitable to observe such thick clusters as adenocarcinoma on cytologic specimens. Artificial intelligence (A...

Histopathological characteristics and artificial intelligence for predicting tumor mutational burden-high colorectal cancer.

Journal of gastroenterology
BACKGROUND: Tumor mutational burden-high (TMB-H), which is detected with gene panel testing, is a promising biomarker for immune checkpoint inhibitors (ICIs) in colorectal cancer (CRC). However, in clinical practice, not every patient is tested for T...

Increasing prediction accuracy of pathogenic staging by sample augmentation with a GAN.

PloS one
Accurate prediction of cancer stage is important in that it enables more appropriate treatment for patients with cancer. Many measures or methods have been proposed for more accurate prediction of cancer stage, but recently, machine learning, especia...

Protein design and variant prediction using autoregressive generative models.

Nature communications
The ability to design functional sequences and predict effects of variation is central to protein engineering and biotherapeutics. State-of-art computational methods rely on models that leverage evolutionary information but are inadequate for importa...

Machine learning-based investigation of the cancer protein secretory pathway.

PLoS computational biology
Deregulation of the protein secretory pathway (PSP) is linked to many hallmarks of cancer, such as promoting tissue invasion and modulating cell-cell signaling. The collection of secreted proteins processed by the PSP, known as the secretome, is ofte...

Machine Learning-Based Multiparametric Magnetic Resonance Imaging Radiomics for Prediction of H3K27M Mutation in Midline Gliomas.

World neurosurgery
OBJECTIVE: H3K27M mutation in gliomas has prognostic implications. Previous magnetic resonance imaging (MRI) studies have reported variable rates of tumoral enhancement, necrotic changes, and peritumoral edema in H3K27M-mutant gliomas, with no distin...

Deciphering Complex Mechanisms of Resistance and Loss of Potency through Coupled Molecular Dynamics and Machine Learning.

Journal of chemical theory and computation
Drug resistance threatens many critical therapeutics through mutations in the drug target. The molecular mechanisms by which combinations of mutations, especially those remote from the active site, alter drug binding to confer resistance are poorly u...

Disentangling the Contribution of Each Descriptive Characteristic of Every Single Mutation to Its Functional Effects.

Journal of chemical information and modeling
Mutational effects predictions continue to improve in accuracy as advanced artificial intelligence (AI) algorithms are trained on exhaustive experimental data. The next natural questions to ask are if it is possible to gain insights into which attrib...

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...