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In this paper, we study the problem of testing the mean vectors of high dimensional data in both one-sample and two-sample cases. The proposed testing procedures employ maximum-type statistics and the parametric bootstrap techniques to…

Statistics Theory · Mathematics 2018-01-23 Jinyuan Chang , Chao Zheng , Wen-Xin Zhou , Wen Zhou

Heterogeneity is a hallmark of many complex diseases. There are multiple ways of defining heterogeneity, among which the heterogeneity in genetic regulations, for example GEs (gene expressions) by CNVs (copy number variations) and…

Methodology · Statistics 2022-12-01 Sanguo Zhang , Xiaonan Hu , Ziye Luo , Yu Jiang , Yifan Sun , Shuangge Ma

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

In cancer biomarker development, a key objective is to evaluate whether a new biomarker, when combined with an established one, improves early cancer detection compared to using the established biomarker alone. Incremental value is often…

Methodology · Statistics 2025-11-21 Indrila Ganguly , Ying Huang

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

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

In cancer research, profiling studies have been extensively conducted, searching for genes/SNPs associated with prognosis. Cancer is a heterogeneous disease. Examining similarity and difference in the genetic basis of multiple subtypes of…

Methodology · Statistics 2013-04-18 Jin Liu , Jian Huang , Yawei Zhang , Qing Lan , Nathaniel Rothman , Tongzhang Zheng , Shuangge Ma

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

We consider multivariate two-sample tests of means, where the location shift between the two populations is expected to be related to a known graph structure. An important application of such tests is the detection of differentially…

Quantitative Methods · Quantitative Biology 2014-05-16 Laurent Jacob , Pierre Neuvial , Sandrine Dudoit

The vast amount of sequencing data presently available allow the scientific community to explore a range of genetic variables that may drive and progress cancer. A myriad of predictive tools has been proposed, allowing researchers and…

Genomics · Quantitative Biology 2023-03-31 Mona Nourbakhsh , Kristine Degn , Astrid Saksager , Matteo Tiberti , Elena Papaleo

The medical research facilitates to acquire a diverse type of data from the same individual for particular cancer. Recent studies show that utilizing such diverse data results in more accurate predictions. The major challenge faced is how…

Genomics · Quantitative Biology 2017-10-11 Jaya Thomas , Lee Sael

Rapid technological advances have allowed for molecular profiling across multiple omics domains from a single sample for clinical decision making in many diseases, especially cancer. As tumor development and progression are dynamic…

Methodology · Statistics 2022-02-11 Dongyan Yan , Subharup Guha

Cancer is a heterogeneous disease with different combinations of genetic and epigenetic alterations driving the development of cancer in different individuals. While these alterations are believed to converge on genes in key cellular…

Quantitative Methods · Quantitative Biology 2015-03-31 Mark D. M. Leiserson , Hsin-Ta Wu , Fabio Vandin , Benjamin J. Raphael

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…

Power-enhanced tests with high-dimensional data have received growing attention in theoretical and applied statistics in recent years. Existing tests possess their respective high-power regions, and we may lack prior knowledge about the…

Methodology · Statistics 2021-10-01 Xiufan Yu , Danning Li , Lingzhou Xue , Runze Li

For many conditions, it is of clinical importance to know not just the ability of a test to distinguish between those with and without the disease, but also the sensitivity to detect disease at different stages: in particular, the test's…

Methodology · Statistics 2026-02-10 Efthymia Derezea , Nicky J Welton , Gabriel Rogers , Hayley E Jones

\textbf{Background}: Identifying differentially methylated regions (DMRs) is a basic task in DNA methylation analysis. However, due to the different strategies adopted, different DMR sets will be predicted on the same dataset, which poses a…

Quantitative Methods · Quantitative Biology 2024-07-16 Wenjin Zhang , Wenlong Jie , Wanxin Cui , Guihua Duan , You zou , Xiaoqing Peng

Recent discoveries have suggested that the promising avenue of using circulating tumor DNA (ctDNA) levels in blood samples provides reasonable accuracy for cancer monitoring, with extremely low burden on the patient's side. It is known that…

Quantitative Methods · Quantitative Biology 2025-06-12 Rémi Vaucher , Stéphane Chrétien

Next-generation sequencing technologies now constitute a method of choice to measure gene expression. Data to analyze are read counts, commonly modeled using Negative Binomial distributions. A relevant issue associated with this…

Methodology · Statistics 2014-11-10 Elisabetta Bonafede , Franck Picard , Stéphane Robin , Cinzia Viroli

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