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Motivation: Bisulphite sequencing enables the detection of cytosine methylation. The sequence of the methylation states of cytosines on any given read forms a methylation pattern that carries substantially more information than merely…

Genomics · Quantitative Biology 2014-12-09 Peijie Lin , Sylvain Foret , Susan R. Wilson , Conrad J. Burden

Mitochondrial DNA (mtDNA) mutations cause severe congenital diseases but may also be associated with healthy aging. MtDNA is stochastically replicated and degraded, and exists within organelles which undergo dynamic fusion and fission. The…

Subcellular Processes · Quantitative Biology 2019-07-04 Juvid Aryaman , Charlotte Bowles , Nick S. Jones , Iain G. Johnston

DNA methylation is a primary layer of epigenetic modification that plays a pivotal role in the regulation of development, aging, and cancer. The concurrent activity of opposing enzymes that mediate DNA methylation and demethylation gives…

Biological Physics · Physics 2026-02-10 Fabrizio Olmeda , Misha Gupta , Onurcan Bektas , Steffen Rulands

Accurate computational identification of DNA methylation is essential for understanding epigenetic regulation. Although deep learning excels in this binary classification task, its "black-box" nature impedes biological insight. We address…

Machine Learning · Computer Science 2026-02-27 Yi He , Yina Cao , Jixiu Zhai , Di Wang , Junxiao Kong , Tianchi Lu

Characterization of pluripotent states, in which cells can both self-renew and differentiate, and the irreversible loss of pluripotency are important research areas in developmental biology. In particular, an understanding of these…

Molecular Networks · Quantitative Biology 2015-09-02 Tadashi Miyamoto , Chikara Furusawa , Kunihiko Kaneko

Background: Recent assays for individual-specific genome-wide DNA methylation profiles have enabled epigenome-wide association studies to identify specific CpG sites associated with a phenotype. Computational prediction of CpG site-specific…

Genomics · Quantitative Biology 2015-11-12 Weiwei Zhang , Tim D Spector , Panos Deloukas , Jordana T Bell , Barbara E Engelhardt

Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) derived from somatic cells (SCs) provide promising resources for regenerative medicine and medical research, leading to a daily identification of new cell lines.…

Quantitative Methods · Quantitative Biology 2013-02-15 Anyou Wang

How do mammalian cells that share the same genome exist in notably distinct phenotypes, exhibiting differences in morphology, gene expression patterns, and epigenetic chromatin statuses? Furthermore how do cells of different phenotypes…

Molecular Networks · Quantitative Biology 2015-04-27 Jianhua Xing , Jin Yu , Hang Zhang , Xiao-Jun Tian

DNA methylation is a well-studied genetic modification that regulates gene transcription of Eukaryotes. Its alternations have been recognized as a significant component of cancer development. In this study, we use the DNA methylation 450k…

Tissues and Organs · Quantitative Biology 2021-01-05 Shen Jia , Yulin Zhang , Yiming Mao , Jiawei Gao , Yixuan Chen , Yuxuan Jiang , Haochen Luo , Kebo Lv , Jionglong Su

Recent evidence highlights the usefulness of DNA methylation (DNAm) biomarkers as surrogates for exposure to risk factors for non-communicable diseases in epidemiological studies and randomized trials. DNAm variability has been demonstrated…

Applications · Statistics 2023-02-28 Andrea Cappozzo , Francesca Ieva , Giovanni Fiorito

The mechanism of threshold elongation (overstretching) of DNA macromolecules under the action of external force is studied within the framework of phenomenological approach. When considering the task it is taken into account that…

Biomolecules · Quantitative Biology 2016-02-22 Sergey N. Volkov

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder characterized by progressive cognitive decline and widespread epigenetic dysregulation in the brain. DNA methylation, as a stable yet dynamic epigenetic modification,…

Genomics · Quantitative Biology 2026-01-05 Gang Qu , Guanghao Li , Zhongming Zhao

Epigenome modulation in response to the environment potentially provides a mechanism for organisms to adapt, both within and between generations. However, neither the extent to which this occurs, nor the molecular mechanisms involved are…

Identifying differentially methylated cytosine-guanine dinucleotide (CpG) sites between benign and tumour samples can assist in understanding disease. However, differential analysis of bounded DNA methylation data often requires data…

Cancer development is associated with aberrant DNA methylation, including increased stochastic variability. Statistical tests for discovering cancer methylation biomarkers have focused on changes in mean methylation. To improve the power of…

Methodology · Statistics 2023-06-27 James Y. Dai , Heng Chen , Xiaoyu Wang , Wei Sun , Ying Huang , William M. Grady , Ziding Feng

Many researches demonstrated that the DNA methylation, which occurs in the context of a CpG, has strong correlation with diseases, including cancer. There is a strong interest in analyzing the DNA methylation data to find how to distinguish…

Genomics · Quantitative Biology 2020-01-29 Hong Yu , Zhanyu Ma

Embryonic stem cells (ESC) have the potential to self-renew indefinitely and to differentiate into any of the three germ layers. The molecular mechanisms for self-renewal, maintenance of pluripotency and lineage specification are poorly…

Genomics · Quantitative Biology 2011-01-11 Florian Markowetz , Klaas W Mulder , Edoardo M Airoldi , Ihor R Lemischka , Olga G Troyanskaya

DNA methylation plays a pivotal role in the genetic evolution of both embryonic and adult cells. For adult somatic cells, location and dynamics of methylation has been very precisely pinned down with the 5-cytosine markers on…

Mesoscale and Nanoscale Physics · Physics 2014-06-04 Towfiq Ahmed , Jason T. Haraldsen , Jian-Xin Zhu , Alexander V. Balatsky

Cell-free DNA (cfDNA) analysis is a powerful, minimally invasive tool for monitoring disease progression, treatment response, and early detection. A major challenge, however, is accurately determining the tissue of origin, especially in…

Genomics · Quantitative Biology 2025-06-03 Keng-Jung Lee , Dharanya Sampath , Konstantinos Mavrommatis