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The research reported in this paper identifies the epigenetic biomarker (methylation beta pattern) of breast cancer. Many cancers are triggered by abnormal gene expression levels caused by aberrant methylation of CpG sites in the DNA. In…

Genomics · Quantitative Biology 2019-10-16 Maxim Vaysburd

DNA Methylation has been the most extensively studied epigenetic mark. Usually a change in the genotype, DNA sequence, leads to a change in the phenotype, observable characteristics of the individual. But DNA methylation, which happens in…

Genomics · Quantitative Biology 2018-07-26 Soham Chatterjee , Archana Iyer , Satya Avva , Abhai Kollara , Malaikannan Sankarasubbu

In this paper we propose network methodology to infer prognostic cancer biomarkers based on the epigenetic pattern DNA methylation. Epigenetic processes such as DNA methylation reflect environmental risk factors, and are increasingly…

Applications · Statistics 2016-08-02 Thomas E. Bartlett , Alexey Zaikin

A Deep Autoencoder based content retrieval algorithm is proposed for prediction and differentiation of cancer types based on the presence of epigenetic patterns of DNA methylation identified in genetic regions known as CpG islands. The…

Quantitative Methods · Quantitative Biology 2018-10-08 Mohammed Khwaja , Melpomeni Kalofonou , Chris Toumazou

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

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 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 make use of ideas from the theory of complex networks to implement a machine learning classification of human DNA methylation data, that carry signatures of cancer development. The data were obtained from patients with various kinds of…

Genomics · Quantitative Biology 2017-02-22 Alexander Karsakov , Thomas Bartlett , Iosif Meyerov , Alexey Zaikin , Mikhail Ivanchenko

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

Early screening for cancer has proven to improve the survival rate and spare patients from intensive and costly treatments due to late diagnosis. Cancer screening in the healthy population involves an initial risk stratification step to…

Motivation: Epigenetic heterogeneity within a tumour can play an important role in tumour evolution and the emergence of resistance to treatment. It is increasingly recognised that the study of DNA methylation (DNAm) patterns along the…

Quantitative Methods · Quantitative Biology 2017-02-21 James E. Barrett , Andrew Feber , Javier Herrero , Miljana Tanic , Gareth Wilson , Charles Swanton , Stephan Beck

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

An early detection of different tumor subtypes is crucial for an effective guidance to personalized therapy. While much efforts focus on decoding the sequence of DNA basis to detect the genetic mutations related to cancer, it is becoming…

Although cancer is known to be characterized by several unifying biological hallmarks, systems biology has had limited success in identifying molecular signatures present in in all types of cancer. The current availability of rich data sets…

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

Colorectal cancer remains a major global health concern, with early detection being pivotal for improving patient outcomes. In this study, we leveraged high throughput methylation profiling of cellfree DNA to identify and validate…

Genomics · Quantitative Biology 2025-05-19 Kartavya Mathur , Shipra Jain , Nisha Bajiya , Nishant Kumar , Gajendra P. S. Raghava

A novel method to classify human cells is presented in this work based on the transform-domain method on DNA methylation data. DNA methylation profile variations are observed in human cells with the progression of disease stages, and the…

Genomics · Quantitative Biology 2020-01-01 Xueyuan Zhao , Dario Pompili

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

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

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

Machine Learning · Statistics 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan
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