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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

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

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 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

In cancer research, high-throughput profiling has been extensively conducted. In recent studies, the integrative analysis of data on multiple cancer patient groups/subgroups has been conducted. Such analysis has the potential to reveal the…

Methodology · Statistics 2022-12-01 Yifan Sun , Zhengyang Sun , Yu Jiang , Yang Li , Shuangge Ma

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

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…

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

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

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

A variety of genome-wide profiling techniques are available to probe complementary aspects of genome structure and function. Integrative analysis of heterogeneous data sources can reveal higher-level interactions that cannot be detected…

Computational Engineering, Finance, and Science · Computer Science 2012-03-23 Leo Lahti , Martin Schäfer , Hans-Ulrich Klein , Silvio Bicciato , Martin Dugas

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…

Modern cancer genomics datasets involve widely varying sizes and scales, measurement variables, and correlation structures. A fundamental analytical goal in these high-throughput studies is the development of general statistical techniques…

Methodology · Statistics 2022-04-12 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

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

While multiple testing procedures have been the focus of much statistical research, an important facet of the problem is how to deal with possible confounding. Procedures have been developed by authors in genetics and statistics. In this…

Methodology · Statistics 2008-12-18 Debashis Ghosh

We propose a new statistics for the detection of differentially expressed genes, when the genes are activated only in a subset of the samples. Statistics designed for this unconventional circumstance has proved to be valuable for most…

Applications · Statistics 2008-12-17 Heng Lian

Epigenetics plays a crucial role in understanding the underlying molecular processes of several types of cancer as well as the determination of innovative therapeutic tools. To investigate the complex interplay between genetics and…

Methodology · Statistics 2024-08-29 Iris Ivy Gauran , Patrick Wincy Reyes , Erniel Barrios , Hernando Ombao

Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a lower cost making such testing accessible to a broader population. Thus, more patients carrying pathogenic germline mutations in various…

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

The estimation of covariance matrices of gene expressions has many applications in cancer systems biology. Many gene expression studies, however, are hampered by low sample size and it has therefore become popular to increase sample size by…

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