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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…

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

DNA methylation is a significant driver of cell-type heterogeneity and has been implicated in various regulatory processes ranging from cell differentiation to imprinting. As the methyl group is embedded in the DNA molecule, assessing DNA…

Quantitative Methods · Quantitative Biology 2023-04-13 Aleksa Krsmanovic

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

The objective of this study is to predict suicidal and non-suicidal deaths from DNA methylation data using a modern machine learning algorithm. We used support vector machines to classify existing secondary data consisting of normalized…

Genomics · Quantitative Biology 2020-04-07 Rifat Zahan , Ian McQuillan , Nathaniel D. Osgood

Epigenetic alterations have an important role in the development of several types of cancer. Epigenetic studies generate a large amount of data, which makes it essential to develop novel models capable of dealing with large-scale data. In…

Machine Learning · Computer Science 2021-02-22 del Amor Rocío , Colomer Adrián , Monteagudo Carlos , Naranjo Valery

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

DNA methylation is a well-studied genetic modification crucial to regulate the functioning of the genome. Its alterations play an important role in tumorigenesis and tumor-suppression. Thus, studying DNA methylation data may help biomarker…

Genomics · Quantitative Biology 2018-04-16 Fabrizio Celli , Fabio Cumbo , Emanuel Weitschek

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

The methylation of DNA regulates gene expression. On cell division the methylation state of the DNA is typically inherited from parent to daughter cells. While the chemical bond between the methyl group and the DNA is very strong, changes…

Populations and Evolution · Quantitative Biology 2012-10-05 Sean P Stromberg

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

Interrogating the evolution of biological changes at early stages of life requires longitudinal profiling of molecules, such as DNA methylation, which can be challenging with children. We introduce a probabilistic and longitudinal machine…

Genomics · Quantitative Biology 2025-04-24 Arthur Leroy , Ai Ling Teh , Frank Dondelinger , Mauricio A. Alvarez , Dennis Wang

High-dimensional data of discrete and skewed nature is commonly encountered in high-throughput sequencing studies. Analyzing the network itself or the interplay between genes in this type of data continues to present many challenges. As…

Methodology · Statistics 2017-12-01 Anjali Silva , Steven J. Rothstein , Paul D. McNicholas , Sanjeena Subedi

Epigenetic observations are represented by the total number of reads from a given pool of cells and the number of methylated reads, making it reasonable to model this data by a binomial distribution. There are numerous factors that can…

Applications · Statistics 2020-04-29 Aliaksandr Hubin , Geir O Storvik , Paul E Grini , Melinka A Butenko

Background: The analysis of DNA methylation is a key component in the development of personalized treatment approaches. A common way to measure DNA methylation is the calculation of beta values, which are bounded variables of the form M =…

Methodology · Statistics 2016-07-26 Leonie Weinhold , Simone Wahl , Matthias Schmid

DNA methylation datasets in cancer studies are comprised of measurements on a large number of genomic locations called cytosine-phosphate-guanine (CpG) sites with complex correlation structures. A fundamental goal of these studies is the…

Methodology · Statistics 2023-05-05 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

This study investigates the correlation between dairy farm characteristics and methane concentrations as derived from satellite observations in Eastern Canada. Utilizing data from 11 dairy farms collected between January 2020 and December…

Machine Learning · Computer Science 2024-11-14 Hanqing Bi , Suresh Neethirajan

Identifying genetic regulators of DNA methylation (mQTLs) with multivariate models enhances statistical power, but is challenged by missing data from bisulfite sequencing. Standard imputation-based methods can introduce bias, limiting…

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

Identifying differentially methylated regions is an important task in epigenome-wide association studies, where differential signals often arise across groups of neighboring CpG sites. Many existing methods detect differentially methylated…

Applications · Statistics 2026-02-05 Zhexuan Yang , Duchwan Ryu , Feng Luan