AIMC Topic: CpG Islands

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DNA methylation-based forensic age prediction using artificial neural networks and next generation sequencing.

Forensic science international. Genetics
The ability to estimate the age of the donor from recovered biological material at a crime scene can be of substantial value in forensic investigations. Aging can be complex and is associated with various molecular modifications in cells that accumul...

DMAK: A curated pan-cancer DNA methylation annotation knowledgebase.

Bioengineered
Pan-cancer analysis can identify cell- and tissue-specific genomic loci and regions with underlying biological functions. Here we present an online curated DNA Methylation Annotation Knowledgebase, DMAK, which includes the pan-cancer analysis results...

Characterization and machine learning prediction of allele-specific DNA methylation.

Genomics
A large collection of Single Nucleotide Polymorphisms (SNPs) has been identified in the human genome. Currently, the epigenetic influences of SNPs on their neighboring CpG sites remain elusive. A growing body of evidence suggests that locus-specific ...

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 ...

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...

Leveraging molecular-QTL co-association to predict novel disease-associated genetic loci using a graph convolutional neural network.

PloS one
Genome-wide association studies (GWAS) have successfully uncovered numerous associations between genetic variants and disease traits to date. Yet, identifying significantly associated loci remains a considerable challenge due to the concomitant multi...

Imputing missing RNA-sequencing data from DNA methylation by using a transfer learning-based neural network.

GigaScience
BACKGROUND: Gene expression plays a key intermediate role in linking molecular features at the DNA level and phenotype. However, owing to various limitations in experiments, the RNA-seq data are missing in many samples while there exist high-quality ...

[Methylation level of MEG3 and semen quality].

Zhonghua nan ke xue = National journal of andrology
OBJECTIVE: To study the relationship between semen quality and the methylation level of maternally expressed gene 3 (MEG3) in sperm.