AIMC Topic: Epigenesis, Genetic

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Integrative analysis of epigenetic and transcriptional interrelations identifies histotype-specific biomarkers in early-stage ovarian carcinoma.

Journal of ovarian research
BACKGROUND: Epithelial ovarian cancer (EOC) is a deadly and heterogenous disease comprising five major histotypes: clear cell carcinoma (CCC), endometrioid carcinoma (EC), low- and high-grade serous carcinoma (LGSC, HGSC), and mucinous carcinoma (MC)...

Epigenome-wide association study identifies a specific panel of DNA methylation signatures for antenatal and postpartum depressive symptoms.

Journal of affective disorders
Depression during pregnancy and postpartum poses significant risks to both maternal and child well-being. The underlying biological mechanisms are unclear, but epigenetic variation could be exploited as a plausible candidate for early detection. We i...

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

EBioMedicine
BACKGROUND: Decisions to split two or more phenotypic manifestations related to genetic variations within the same gene can be challenging, especially during the early stages of syndrome discovery. Genotype-based diagnostics with artificial intellige...

Pathogenomic fingerprinting to identify associations between tumor morphology and epigenetic states.

European journal of cancer (Oxford, England : 1990)
INTRODUCTION: Measuring the chromatin state of a tumor provides a powerful map of its epigenetic commitments; however, as these are generally bulk measurements, it has not yet been possible to connect changes in chromatin accessibility to the patholo...

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...

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 ...