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Mutation

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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...

Discovering genotype-phenotype relationships with machine learning and the Visual Physiology Opsin Database (VPOD).

GigaScience
BACKGROUND: Predicting phenotypes from genetic variation is foundational for fields as diverse as bioengineering and global change biology, highlighting the importance of efficient methods to predict gene functions. Linking genetic changes to phenoty...

Deep learning for discriminating non-trivial conformational changes in molecular dynamics simulations of SARS-CoV-2 spike-ACE2.

Scientific reports
Molecular dynamics (MD) simulations produce a substantial volume of high-dimensional data, and traditional methods for analyzing these data pose significant computational demands. Advances in MD simulation analysis combined with deep learning-based a...

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...

Deep learning-based analysis of EGFR mutation prevalence in lung adenocarcinoma H&E whole slide images.

The journal of pathology. Clinical research
EGFR mutations are a major prognostic factor in lung adenocarcinoma. However, current detection methods require sufficient samples and are costly. Deep learning is promising for mutation prediction in histopathological image analysis but has limitati...

Machine Learning Guided Rational Design of a Non-Heme Iron-Based Lysine Dioxygenase Improves its Total Turnover Number.

Chembiochem : a European journal of chemical biology
Highly selective C-H functionalization remains an ongoing challenge in organic synthetic methodologies. Biocatalysts are robust tools for achieving these difficult chemical transformations. Biocatalyst engineering has often required directed evolutio...

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...

Artificial intelligence can be trained to predict -11 mutational status of canine mast cell tumors from hematoxylin and eosin-stained histological slides.

Veterinary pathology
Numerous prognostic factors are currently assessed histologically and immunohistochemically in canine mast cell tumors (MCTs) to evaluate clinical behavior. In addition, polymerase chain reaction (PCR) is often performed to detect internal tandem dup...