AIMC Topic: Epigenome

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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...

Predicting cell type-specific epigenomic profiles accounting for distal genetic effects.

Nature communications
Understanding how genetic variants affect the epigenome is key to interpreting GWAS, yet profiling these effects across the non-coding genome remains challenging due to experimental scalability. This necessitates accurate computational models. Existi...

Integrated epigenomic exposure signature discovery.

Epigenomics
The epigenome influences gene regulation and phenotypes in response to exposures. Epigenome assessment can determine exposure history aiding in diagnosis. Here we developed and implemented a machine learning algorithm, the exposure signature discove...

Role of different omics data in the diagnosis of schizophrenia disorder: A machine learning study.

Schizophrenia research
Schizophrenia is a serious mental disorder that affects millions of people worldwide. This disorder slowly disintegrates thinking ability and changes behaviours of patients. These patients will show some psychotic symptoms such as hallucinations, del...

Latent Representation of the Human Pan-Celltype Epigenome Through a Deep Recurrent Neural Network.

IEEE/ACM transactions on computational biology and bioinformatics
The availability of thousands of assays of epigenetic activity necessitates compressed representations of these data sets that summarize the epigenetic landscape of the genome. Until recently, most such representations were cell type-specific, applyi...

The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome.

Nature cancer
We report a systematic analysis of the DNA methylation variability in 1,595 samples of normal cell subpopulations and 14 tumor subtypes spanning the entire human B-cell lineage. Differential methylation among tumor entities relates to differences in ...

Accurate prediction of DNA N-methylcytosine sites via boost-learning various types of sequence features.

BMC genomics
BACKGROUND: DNA N4-methylcytosine (4mC) is a critical epigenetic modification and has various roles in the restriction-modification system. Due to the high cost of experimental laboratory detection, computational methods using sequence characteristic...

Epigenome-based splicing prediction using a recurrent neural network.

PLoS computational biology
Alternative RNA splicing provides an important means to expand metazoan transcriptome diversity. Contrary to what was accepted previously, splicing is now thought to predominantly take place during transcription. Motivated by emerging data showing th...

Avocado: a multi-scale deep tensor factorization method learns a latent representation of the human epigenome.

Genome biology
The human epigenome has been experimentally characterized by thousands of measurements for every basepair in the human genome. We propose a deep neural network tensor factorization method, Avocado, that compresses this epigenomic data into a dense, i...

Graph embedding and unsupervised learning predict genomic sub-compartments from HiC chromatin interaction data.

Nature communications
Chromatin interaction studies can reveal how the genome is organized into spatially confined sub-compartments in the nucleus. However, accurately identifying sub-compartments from chromatin interaction data remains a challenge in computational biolog...