AI Medical Compendium Topic

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Epigenesis, Genetic

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Epigenetic profiling for prognostic stratification and personalized therapy in breast cancer.

Frontiers in immunology
BACKGROUND: The rising incidence of breast cancer and its heterogeneity necessitate precise tools for predicting patient prognosis and tailoring personalized treatments. Epigenetic changes play a critical role in breast cancer progression and therapy...

Endometrial tumorigenesis involves epigenetic plasticity demarcating non-coding somatic mutations and 3D-genome alterations.

Genome biology
BACKGROUND: The incidence and mortality of endometrial cancer (EC) is on the rise. Eighty-five percent of ECs depend on estrogen receptor alpha (ERα) for proliferation, but little is known about its transcriptional regulation in these tumors.

ChromActivity: integrative epigenomic and functional characterization assay based annotation of regulatory activity across diverse human cell types.

Genome biology
We introduce ChromActivity, a computational framework for predicting and annotating regulatory activity across the genome through integration of multiple epigenomic maps and various functional characterization datasets. ChromActivity generates genome...

The relationship between epigenetic biomarkers and the risk of diabetes and cancer: a machine learning modeling approach.

Frontiers in public health
INTRODUCTION: Epigenetic biomarkers are molecular indicators of epigenetic changes, and some studies have suggested that these biomarkers have predictive power for disease risk. This study aims to analyze the relationship between 30 epigenetic biomar...

Spatial recognition and semi-quantification of epigenetic events in pancreatic cancer subtypes with multiplexed molecular imaging and machine learning.

Scientific reports
Genomic alterations are the driving force behind pancreatic cancer (PC) tumorigenesis, but they do not fully account for its diverse phenotypes. Investigating the epigenetic landscapes of PC offers a more comprehensive understanding and could identif...

Deep learning imputes DNA methylation states in single cells and enhances the detection of epigenetic alterations in schizophrenia.

Cell genomics
DNA methylation (DNAm) is a key epigenetic mark with essential roles in gene regulation, mammalian development, and human diseases. Single-cell technologies enable profiling DNAm at cytosines in individual cells, but they often suffer from low covera...

Identification of 17 novel epigenetic biomarkers associated with anxiety disorders using differential methylation analysis followed by machine learning-based validation.

Clinical epigenetics
BACKGROUND: The changes in DNA methylation patterns may reflect both physical and mental well-being, the latter being a relatively unexplored avenue in terms of clinical utility for psychiatric disorders. In this study, our objective was to identify ...

Interpretable deep learning of single-cell and epigenetic data reveals novel molecular insights in aging.

Scientific reports
Deep learning (DL) and explainable artificial intelligence (XAI) have emerged as powerful machine-learning tools to identify complex predictive data patterns in a spatial or temporal domain. Here, we consider the application of DL and XAI to large om...

Genome-wide methylome modeling via generative AI incorporating long- and short-range interactions.

Science advances
Using millions of methylation segments, we developed DiffuCpG, a generative artificial intelligence (AI) diffusion model designed to solve the critical challenge of missing data in high-throughput methylation technologies. DiffuCpG goes beyond conven...

DeepMethyGene: a deep-learning model to predict gene expression using DNA methylations.

BMC bioinformatics
Gene expression is the basis for cells to achieve various functions, while DNA methylation constitutes a critical epigenetic mechanism governing gene expression regulation. Here we propose DeepMethyGene, an adaptive recursive convolutional neural net...