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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

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

Motivation: DNA methylation is an intensely studied epigenetic mark, yet its functional role is incompletely understood. Attempts to quantitatively associate average DNA methylation to gene expression yield poor correlations outside of the…

Genomics · Quantitative Biology 2016-11-17 Chantriolnt-Andreas Kapourani , Guido Sanguinetti

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 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

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

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…

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

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

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

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

In cancer research, the comparison of gene expression or DNA methylation networks inferred from healthy controls and patients can lead to the discovery of biological pathways associated to the disease. As a cancer progresses, its signalling…

Methodology · Statistics 2015-06-17 Da Ruan , Alastair Young , Giovanni Montana

Artificial intelligence methods including deep neural networks (DNN) can provide rapid molecular classification of tumors from routine histology with accuracy that matches or exceeds human pathologists. Discerning how neural networks make…

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

Over the past few years, there has been a considerable spread of microarray technology in many biological patterns, particularly in those pertaining to cancer diseases like leukemia, prostate, colon cancer, etc. The primary bottleneck that…

Quantitative Methods · Quantitative Biology 2020-07-20 Parth Patel , Kalpdrum Passi , Chakresh Kumar Jain

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 this paper, we examine the strength of deep learning technique for diagnosing lung cancer on medical image analysis problem. Convolutional neural networks (CNNs) models become popular among the pattern recognition and computer vision…

Computer Vision and Pattern Recognition · Computer Science 2018-04-24 Mehdi Fatan Serj , Bahram Lavi , Gabriela Hoff , Domenec Puig Valls

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…

Network biology has been successfully used to help reveal complex mechanisms of disease, especially cancer. On the other hand, network biology requires in-depth knowledge to construct disease-specific networks, but our current knowledge is…

Computer Vision and Pattern Recognition · Computer Science 2018-06-18 Sungmin Rhee , Seokjun Seo , Sun Kim

Deep learning has introduced several learning-based methods to recognize breast tumours and presents high applicability in breast cancer diagnostics. It has presented itself as a practical installment in Computer-Aided Diagnostic (CAD)…

Image and Video Processing · Electrical Eng. & Systems 2022-02-15 Timothy Kwong , Samaneh Mazaheri
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