AIMC Topic: DNA Methylation

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Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging.

Expert review of molecular diagnostics
INTRODUCTION: Pancreatic Cancer (PC) is a highly aggressive tumor that is mainly diagnosed at later stages. Various imaging technologies, such as CT, MRI, and EUS, possess limitations in early PC diagnosis. Therefore, this review article explores the...

Development and validation of a machine learning prognostic model based on an epigenomic signature in patients with pancreatic ductal adenocarcinoma.

International journal of medical informatics
BACKGROUND: In Pancreatic Ductal Adenocarcinoma (PDAC), current prognostic scores are unable to fully capture the biological heterogeneity of the disease. While some approaches investigating the role of multi-omics in PDAC are emerging, the analysis ...

Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA profiling.

Human molecular genetics
BACKGROUND: Early diagnosis, close follow-up and timely delivery constitute the main elements for appropriate detection and management of Fetal Growth Disorders (FGD). We hypothesized that fetoplacental FGD-associated alterations can be detected in c...

The predictive power of profiling the DNA methylome in human health and disease.

Epigenomics
Early and accurate diagnosis significantly improves the chances of disease survival. DNA methylation (5mC), the major DNA modification in the human genome, is now recognized as a biomarker of immense clinical potential. This is due to its ability to ...

AutoFE-Pointer: Auto-weighted feature extractor based on pointer network for DNA methylation prediction.

International journal of biological macromolecules
DNA methylation is a critical epigenetic modification that plays a central role in gene regulation, cellular differentiation, and the development of various diseases, including cancers. Aberrant methylation patterns have emerged as both biomarkers an...

Methylomes Reveal Recent Evolutionary Changes in Populations of Two Plant Species.

Genome biology and evolution
Plant DNA methylation changes occur hundreds to thousands of times faster than DNA mutations and can be transmitted transgenerationally, making them useful for studying population-scale patterns in clonal or selfing species. However, a state-of-the-a...

Temporally discordant chromatin accessibility and DNA demethylation define short- and long-term enhancer regulation during cell fate specification.

Cell reports
Chromatin and DNA modifications mediate the transcriptional activity of lineage-specifying enhancers, but recent work challenges the dogma that joint chromatin accessibility and DNA demethylation are prerequisites for transcription. To understand thi...

ReQuant: improved base modification calling by k-mer value imputation.

Nucleic acids research
Nanopore sequencing allows identification of base modifications, such as methylation, directly from raw current data. Prevailing approaches, including deep learning (DL) methods, require training data covering all possible sequence contexts. These da...

Identifying the DNA methylation preference of transcription factors using ProtBERT and SVM.

PLoS computational biology
Transcription factors (TFs) can affect gene expression by binding to certain specific DNA sequences. This binding process of TFs may be modulated by DNA methylation. A subset of TFs that serve as methylation readers preferentially binds to certain me...

MethPriorGCN: a deep learning tool for inferring DNA methylation prior knowledge and guiding personalized medicine.

Briefings in bioinformatics
DNA methylation plays a crucial role in human diseases pathogenesis. Substantial experimental evidence from clinical and biological studies has confirmed numerous methylation-disease associations, which provide valuable prior knowledge for advancing ...