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Mutational signatures are patterns of somatic mutations in tumor genomes that provide insights into underlying mutagenic processes and cancer origin. Developing reliable methods for their estimation is of growing importance in cancer…

Applications · Statistics 2025-02-04 Blake Hansen , Isabella N. Grabski , Giovanni Parmigiani , Roberta De Vito

Cancer radiomics is an emerging discipline promising to elucidate lesion phenotypes and tumor heterogeneity through patterns of enhancement, texture, morphology, and shape. The prevailing technique for image texture analysis relies on the…

Applications · Statistics 2020-11-12 Xiao Li , Michele Guindani , Chaan S. Ng , Brian P. Hobbs

A Bayesian feature allocation model (FAM) is presented for identifying cell subpopulations based on multiple samples of cell surface or intracellular marker expression level data obtained by cytometry by time of flight (CyTOF). Cell…

Applications · Statistics 2020-02-21 Arthur Lui , Juhee Lee , Peter F. Thall , May Daher , Katy Rezvani , Rafet Barar

Motivated by a non-random but clustered distribution of SNPs, we introduce a phenomenological model to account for the clustering properties of SNPs in the human genome. The phenomenological model is based on a preferential mutation to the…

Genomics · Quantitative Biology 2016-05-24 Chang-Yong Lee

Heterogeneity is a hallmark of all cancers. Tumor heterogeneity is found at different levels -- interpatient, intrapatient, and intratumor heterogeneity. All of them pose challenges for clinical treatments. The latter two scenarios can also…

Soft Condensed Matter · Physics 2020-04-03 Xin Li , D. Thirumalai

A tumor can be thought of as an ecosystem, which critically means that we cannot just consider it as a collection of mutated cells but more as a complex system of many interacting cellular and microenvironmental elements. At its simplest, a…

Populations and Evolution · Quantitative Biology 2013-05-03 Jill Gallaher , Alexander R. A. Anderson

High-throughput sequencing allows the detection and quantification of frequencies of somatic single nucleotide variants (SNV) in heterogeneous tumor cell populations. In some cases, the evolutionary history and population frequency of the…

Machine Learning · Computer Science 2013-11-05 Wei Jiao , Shankar Vembu , Amit G. Deshwar , Lincoln Stein , Quaid Morris

Targeted therapies on the basis of genomic aberrations analysis of the tumor have shown promising results in cancer prognosis and treatment. Regardless of tumor type, trials that match patients to targeted therapies for their particular…

Applications · Statistics 2018-04-18 Yanxun Xu , Peter Mueller , Apostolia M Tsimberidou , Donald Berry

Graphical models are commonly used to discover associations within gene or protein networks for complex diseases such as cancer. Most existing methods estimate a single graph for a population, while in many cases, researchers are interested…

Recently, there has been a resurgence of interest in rigorous algorithms for the inference of cancer progression from genomic data. The motivations are manifold: (i) growing NGS and single cell data from cancer patients, (ii) need for novel…

Machine Learning · Computer Science 2016-02-25 Daniele Ramazzotti

Accurate tumor classification is essential for selecting effective treatments, but current methods have limitations. Standard tumor grading, which categorizes tumors based on cell differentiation, is not recommended as a stand-alone…

Computer Vision and Pattern Recognition · Computer Science 2025-02-11 Marianne Abémgnigni Njifon , Tobias Weber , Viktor Bezborodov , Tyll Krueger , Dominic Schuhmacher

Gaussian graphical models typically assume a homogeneous structure across all subjects, which is often restrictive in applications. In this article, we propose a weighted pseudo-likelihood approach for graphical modeling which allows…

Methodology · Statistics 2023-03-17 Sutanoy Dasgupta , Peng Zhao , Jacob Helwig , Prasenjit Ghosh , Debdeep Pati , Bani K. Mallick

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

Since the emergence of genome-wide association studies (GWASs), estimation of the narrow sense heritability explained by common single-nucleotide polymorphisms (SNPs) via linear mixed model approaches became widely used. As in most GWASs,…

Methodology · Statistics 2015-07-31 Najla Saad Elhezzani

Extracting genetic information from a full range of sequencing data is important for understanding diseases. We propose a novel method to effectively explore the landscape of genetic mutations and aggregate them to predict cancer type. We…

Genomics · Quantitative Biology 2018-10-10 Zexian Zeng , Andy Vo , Chengsheng Mao , Susan E Clare , Seema A Khan , Yuan Luo

Heterogeneity in characteristics from one region (sub-population) to another, commonly observed in complex systems, such as glasses and a collection of cells, is hard to describe theoretically. In the context of cancer, intra-tumor…

Soft Condensed Matter · Physics 2022-02-23 Sumit Sinha , Xin Li , Dave Thirumalai

We propose a new methodology for selecting and ranking covariates associated with a variable of interest in a context of high-dimensional data under dependence but few observations. The methodology successively intertwines the clustering of…

Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised…

Genomics · Quantitative Biology 2026-04-27 Shanshan Ren , Thomas E. Bartlett , Lina Gerontogianni , Swati Chandna

Reliably predicting the future spread of brain tumors using imaging data and on a subject-specific basis requires quantifying uncertainties in data, biophysical models of tumor growth, and spatial heterogeneity of tumor and host tissue.…

Computational Engineering, Finance, and Science · Computer Science 2022-09-27 Baoshan Liang , Jingye Tan , Luke Lozenski , David A. Hormuth , Thomas E. Yankeelov , Umberto Villa , Danial Faghihi

Individual cancer cells carry a bewildering number of distinct genomic alterations i.e., copy number variations and mutations, making it a challenge to uncover genomic-driven mechanisms governing tumorigenesis. Here we performed…