AIMC Topic: Epigenomics
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Artificial Intelligence in cancer epigenomics: a review on advances in pan-cancer detection and precision medicine.
Epigenetics & chromatin
Jun 14, 2025
DNA methylation is a fundamental epigenetic modification that regulates gene expression and maintains genomic stability. Consequently, DNA methylation remains a key biomarker in cancer research, playing a vital role in diagnosis, prognosis, and tailo...
Neur-Ally: a deep learning model for regulatory variant prediction based on genomic and epigenomic features in brain and its validation in certain neurological disorders.
NAR genomics and bioinformatics
Jun 13, 2025
Large-scale quantitative studies have identified significant genetic associations for various neurological disorders. Expression quantitative trait locus (eQTL) studies have shown the effect of single-nucleotide polymorphisms (SNPs) on the differenti...
Recent advances in omics and the integration of multi-omics in osteoarthritis research.
Arthritis research & therapy
May 3, 2025
Osteoarthritis (OA) is a complex disorder driven by the combination of environmental and genetic factors. Given its high global prevalence and heterogeneity, developing effective and personalized treatment methods is crucial. This requires identifyin...
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
EBioMedicine
Apr 24, 2025
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...
TRAPT: a multi-stage fused deep learning framework for predicting transcriptional regulators based on large-scale epigenomic data.
Nature communications
Apr 16, 2025
It is challenging to identify regulatory transcriptional regulators (TRs), which control gene expression via regulatory elements and epigenomic signals, in context-specific studies on the onset and progression of diseases. The use of large-scale mult...
Pathogenomic fingerprinting to identify associations between tumor morphology and epigenetic states.
European journal of cancer (Oxford, England : 1990)
Apr 14, 2025
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
Apr 11, 2025
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...
Integration of epigenomic and genomic data to predict residual feed intake and the feed conversion ratio in dairy sheep via machine learning algorithms.
BMC genomics
Mar 31, 2025
BACKGROUND: Feed efficiency (FE) is an essential trait in livestock species because of the constant demand to increase the productivity and sustainability of livestock production systems. A better understanding of the biological mechanisms associated...
Spatial recognition and semi-quantification of epigenetic events in pancreatic cancer subtypes with multiplexed molecular imaging and machine learning.
Scientific reports
Feb 22, 2025
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...
Identification of 17 novel epigenetic biomarkers associated with anxiety disorders using differential methylation analysis followed by machine learning-based validation.
Clinical epigenetics
Feb 17, 2025
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 ...
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