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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

Microbiome data analysis is essential for understanding host health and disease, yet its inherent sparsity and noise pose major challenges for accurate imputation, hindering downstream tasks such as biomarker discovery. Existing imputation…

Machine Learning · Computer Science 2025-08-01 Rabeya Tus Sadia , Qiang Cheng

Mitosis nuclei count is one of the important indicators for the pathological diagnosis of breast cancer. The manual annotation needs experienced pathologists, which is very time-consuming and inefficient. With the development of deep…

Computer Vision and Pattern Recognition · Computer Science 2022-12-29 Huadeng Wang , Zhipeng Liu , Rushi Lan , Zhenbing Liu , Xiaonan Luo , Xipeng Pan , Bingbing Li

Array comparative genomic hybridization(CGH) is a high resolution technique to assess DNA copy number variation. Identifying breakpoints where copy number changes will enhance the understanding of the pathogenesis of human diseases, such as…

Applications · Statistics 2012-01-26 Bin Zhu , Jeremy M. G. Taylor , Peter X. -K. Song

The analysis of large-scale datasets, especially in biomedical contexts, frequently involves a principled screening of multiple hypotheses. The celebrated two-group model jointly models the distribution of the test statistics with mixtures…

Methodology · Statistics 2023-03-10 Francesco Denti , Stefano Peluso , Michele Guindani , Antonietta Mira

We consider the problem of clustering grouped data for which the observations may include group-specific variables in addition to the variables that are shared across groups. This type of data is common in cancer genomics where the…

Methodology · Statistics 2025-09-30 Arhit Chakrabarti , Yang Ni , Debdeep Pati , Bani K. Mallick

Background: Recent assays for individual-specific genome-wide DNA methylation profiles have enabled epigenome-wide association studies to identify specific CpG sites associated with a phenotype. Computational prediction of CpG site-specific…

Genomics · Quantitative Biology 2015-11-12 Weiwei Zhang , Tim D Spector , Panos Deloukas , Jordana T Bell , Barbara E Engelhardt

We provide a mathematical formulation and develop a computational framework for identifying multiple strains of microorganisms from mixed samples of DNA. Our method is applicable in public health domains where efficient identification of…

CpG islands (CGI) marked by bivalent chromatin in stem cells are believed to be more prone to aberrant DNA methylation in tumor cells. The robustness and genome-wide extent of this instructive program in different cancer types remain to be…

Genomics · Quantitative Biology 2018-11-12 Franck Court , Philippe Arnaud

The integration of multi-omics data has emerged as a promising approach for gaining comprehensive insights into complex diseases such as cancer. This paper proposes a novel approach to identify cancer subtypes through the integration of…

Machine Learning · Computer Science 2023-12-06 Mark Peelen , Leila Bagheriye , Johan Kwisthout

Motivation: Methods are needed to test pre-defined genomic regions such as promoters for differential methylation in genome-wide association studies, where the number of samples is limited and the data have large amounts of measurement…

Genomics · Quantitative Biology 2014-07-25 Duchwan Ryu , Hongyan Xu , Varghese George , Shaoyong Su , Xiaoling Wang , Huidong Shi , Robert H. Podolsky

Discrete biomarkers derived as cell densities or counts from tissue microarrays and immunostaining are widely used to study immune signatures in relation to survival outcomes in cancer. Although routinely collected, these signatures are not…

Clustering is commonly performed as an initial analysis step for uncovering structure in 'omics datasets, e.g. to discover molecular subtypes of disease. The high-throughput, high-dimensional nature of these datasets means that they provide…

Methodology · Statistics 2023-03-02 Paul D. W. Kirk , Filippo Pagani , Sylvia Richardson

Oral cancer ranks among the most prevalent cancers globally, with a particularly high mortality rate in regions lacking adequate healthcare access. Early diagnosis is crucial for reducing mortality; however, challenges persist due to…

Computer Vision and Pattern Recognition · Computer Science 2025-10-03 Akshay Bhagwan Sonawane , Lena D. Swamikannan , Lakshman Tamil

This paper explores the transgenerational DNA methylation pattern (DNA methylation transmitted from one generation to the next) via a clustering approach. Beta regression is employed to model the transmission pattern from parents to their…

Motivation: Array Comparative Genomic Hybridization (aCGH) is used to scan the entire genome for variations in DNA copy number. A central task in the analysis of aCGH data is the segmentation into groups of probes sharing the same DNA copy…

Quantitative Methods · Quantitative Biology 2008-04-29 Erez Ben-Yaacov , Yonina Eldar

Motivation: Bisulphite sequencing enables the detection of cytosine methylation. The sequence of the methylation states of cytosines on any given read forms a methylation pattern that carries substantially more information than merely…

Genomics · Quantitative Biology 2014-12-09 Peijie Lin , Sylvain Foret , Susan R. Wilson , Conrad J. Burden

DNA methylation is an intensely studied epigenetic mark implicated in many biological processes of direct clinical relevance. While sequencing based technologies are increasingly allowing high resolution measurements of DNA methylation,…

Quantitative Methods · Quantitative Biology 2014-10-27 Tom Mayo , Gabriele Schweikert , Guido Sanguinetti

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu

The assessment of imaging biomarkers is critical for advancing precision medicine and improving disease characterization. Despite the availability of methods to derive disease heterogeneity metrics in imaging studies, a robust framework for…