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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

This paper explores the transgenerational DNA methylation pattern (DNA methylation transmitted from one generation to the next) via a clustering approach. Beta regression is employed to model the transmission pattern from parents to their…

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

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

In Cowell et al. (2007), a Bayesian network for analysis of mixed traces of DNA was presented using gamma distributions for modelling peak sizes in the electropherogram. It was demonstrated that the analysis was sensitive to the choice of a…

Methodology · Statistics 2013-06-21 Therese Graversen , Steffen Lauritzen

DNA methylation is an epigenetic mechanism that regulates gene expression by adding methyl groups to DNA. Abnormal methylation patterns can disrupt gene expression and have been linked to cancer development. To quantify DNA methylation,…

Image and Video Processing · Electrical Eng. & Systems 2025-04-09 Manahil Raza , Muhammad Dawood , Talha Qaiser , Nasir M. Rajpoot

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…

Identifying disease-associated changes in DNA methylation can help to gain a better understanding of disease etiology. Bisulfite sequencing technology allows the generation of methylation profiles at single base of DNA. We previously…

In many fields, researchers are interested in large and complex biological processes. Two important examples are gene expression and DNA methylation in genetics. One key problem is to identify aberrant patterns of these processes and…

Applications · Statistics 2012-10-03 Matthias Kormaksson , James G. Booth , Maria E. Figueroa , Ari Melnick

DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and understanding DNAme profiles offers considerable promise for…

We develop Bayesian inference methods for a recently-emerging type of epigenetic data to study the transmission fidelity of DNA methylation patterns over cell divisions. The data consist of parent-daughter double-stranded DNA methylation…

DNA methylation is an important epigenetic mark that has been studied extensively for its regulatory role in biological processes and diseases. WGBS allows for genome-wide measurements of DNA methylation up to single-base resolutions, yet…

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

We present a new non-negative matrix factorization model for $(0,1)$ bounded-support data based on the doubly non-central beta (DNCB) distribution, a generalization of the beta distribution. The expressiveness of the DNCB distribution is…

Machine Learning · Statistics 2021-06-15 Aaron Schein , Anjali Nagulpally , Hanna Wallach , Patrick Flaherty

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

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

DNA methylation is an epigenetic mechanism whose important role in development has been widely recognized. This epigenetic modification results in heritable changes in gene expression not encoded by the DNA sequence. The underlying…

Genomics · Quantitative Biology 2017-07-11 Alexander Lück , Pascal Giehr , Jörn Walter , Verena Wolf

Batch Normalization (BN) and its variants have delivered tremendous success in combating the covariate shift induced by the training step of deep learning methods. While these techniques normalize feature distributions by standardizing with…

Machine Learning · Computer Science 2021-05-06 Mandy Lu , Qingyu Zhao , Jiequan Zhang , Kilian M. Pohl , Li Fei-Fei , Juan Carlos Niebles , Ehsan Adeli

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

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
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