AIMC Topic: Mutation

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Multi-omics characterization and machine learning of lung adenocarcinoma molecular subtypes to guide precise chemotherapy and immunotherapy.

Frontiers in immunology
BACKGROUND: Lung adenocarcinoma (LUAD) is a heterogeneous tumor characterized by diverse genetic and molecular alterations. Developing a multi-omics-based classification system for LUAD is urgently needed to advance biological understanding.

GFPrint™: A machine learning tool for transforming genetic data into clinical insights.

PloS one
The increasing availability of massive genetic sequencing data in the clinical setting has triggered the need for appropriate tools to help fully exploit the wealth of information these data possess. GFPrint™ is a proprietary streaming algorithm desi...

Triple-Action Therapy: Combining Machine Learning, Docking, and Dynamics to Combat BRCA1-Mutated Breast Cancer.

Molecular biotechnology
Breast cancer dominates women's mortality, and among other factors, mutations in the BRCA1 gene are significant risk factors. Several approaches are followed to treat the BRCA1 affected cancer patients. However, specific BRCA1 inhibitors are not avai...

Machine learning-informed liquid-liquid phase separation for personalized breast cancer treatment assessment.

Frontiers in immunology
BACKGROUND: Breast cancer, characterized by its heterogeneity, is a leading cause of mortality among women. The study aims to develop a Machine Learning-Derived Liquid-Liquid Phase Separation (MDLS) model to enhance the prognostic accuracy and person...

Machine learning-driven estimation of mutational burden highlights DNAH5 as a prognostic marker in colorectal cancer.

Biology direct
BACKGROUND: Tumor Mutational Burden (TMB) have emerged as pivotal predictive biomarkers in determining prognosis and response to immunotherapy in colorectal cancer (CRC) patients. While Whole Exome Sequencing (WES) stands as the gold standard for TMB...

Leveraging large-scale Mycobacterium tuberculosis whole genome sequence data to characterise drug-resistant mutations using machine learning and statistical approaches.

Scientific reports
Tuberculosis disease (TB), caused by Mycobacterium tuberculosis (Mtb), is a major global public health problem, resulting in > 1 million deaths each year. Drug resistance (DR), including the multi-drug form (MDR-TB), is challenging control of the dis...

Generative AI in the Advancement of Viral Therapeutics for Predicting and Targeting Immune-Evasive SARS-CoV-2 Mutations.

IEEE journal of biomedical and health informatics
The emergence of immune-evasive mutations in the SARS-CoV-2 spike protein is consistently challenging existing vaccines and therapies, making precise prediction of their escape potential a critical imperative. Artificial Intelligence(AI) holds great ...

Classifying driver mutations of papillary thyroid carcinoma on whole slide image: an automated workflow applying deep convolutional neural network.

Frontiers in endocrinology
BACKGROUND: Informative biomarkers play a vital role in guiding clinical decisions regarding management of cancers. We have previously demonstrated the potential of a deep convolutional neural network (CNN) for predicting cancer driver gene mutations...

An interpretable deep learning model for detecting pathogenic variants of breast cancer from hematoxylin and eosin-stained pathological images.

PeerJ
BACKGROUND: Determining the status of breast cancer susceptibility genes () is crucial for guiding breast cancer treatment. Nevertheless, the need for genetic testing among breast cancer patients remains unmet due to high costs and limited resources...

Ensemble transformer-based multiple instance learning to predict pathological subtypes and tumor mutational burden from histopathological whole slide images of endometrial and colorectal cancer.

Medical image analysis
In endometrial cancer (EC) and colorectal cancer (CRC), in addition to microsatellite instability, tumor mutational burden (TMB) has gradually gained attention as a genomic biomarker that can be used clinically to determine which patients may benefit...