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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

Gene expression analysis is a critical method for cancer classification, enabling precise diagnoses through the identification of unique molecular signatures associated with various tumors. Identifying cancer-specific genes from gene…

Quantitative Methods · Quantitative Biology 2024-10-11 Farzana Tabassum , Sabrina Islam , Siana Rizwan , Masrur Sobhan , Tasnim Ahmed , Sabbir Ahmed , Tareque Mohmud Chowdhury

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…

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

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

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

The prediction plays the important role in detecting efficient protection and therapy of cancer. The prediction of mutations in gene needs a diagnostic and classification, which is based on the whole database (big dataset), to reach…

Machine Learning · Computer Science 2016-08-10 Ayad Ghany Ismaeel , Dina Yousif Mikhail

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

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

A key focus in current cancer research is the discovery of cancer biomarkers that allow earlier detection with high accuracy and lower costs for both patients and hospitals. Blood samples have long been used as a health status indicator,…

Genomics · Quantitative Biology 2018-12-24 Xi Chen , Jin Xie , Qingcong Yuan

Late diagnosis and high costs are key factors that negatively impact the care of cancer patients worldwide. Although the availability of biological markers for the diagnosis of cancer type is increasing, costs and reliability of tests…

Machine Learning · Computer Science 2019-08-20 Sterling Ramroach , Melford John , Ajay Joshi

Pan-cancer classification using transcriptomic (RNA-Seq) data can inform tumor subtyping and therapy selection, but is challenging due to extremely high dimensionality and limited sample sizes. In this study, we propose a novel deep…

Genomics · Quantitative Biology 2025-08-06 Vinil Polepalli

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

Cancer and its subtypes constitute approximately 30% of all causes of death globally and display a wide range of heterogeneity in terms of clinical and molecular responses to therapy. Molecular subtyping has enabled the use of precision…

Quantitative Methods · Quantitative Biology 2024-07-11 Anwar Khan , Boreom Lee

Gene expression profiles obtained through DNA microarray have proven successful in providing critical information for cancer detection classifiers. However, the limited number of samples in these datasets poses a challenge to employ complex…

Machine Learning · Computer Science 2024-08-20 Arya Hadizadeh Moghaddam , Mohsen Nayebi Kerdabadi , Cuncong Zhong , Zijun Yao

Determining the primary site of origin for metastatic tumors is one of the open problems in cancer care because the efficacy of treatment often depends on the cancer tissue of origin. Classification methods that can leverage tumor genomic…

Genomics · Quantitative Biology 2019-11-19 Alena Harley

Cancer is a term that denotes a group of diseases caused by abnormal growth of cells that can spread in different parts of the body. According to the World Health Organization (WHO), cancer is the second major cause of death after…

Machine Learning · Computer Science 2023-01-31 Fadi Alharbi , Aleksandar Vakanski
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