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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…

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

Precision medicine aims for personalized prognosis and therapeutics by utilizing recent genome-scale high-throughput profiling techniques, including next-generation sequencing (NGS). However, translating NGS data faces several challenges.…

In this study, we develop consistent estimators for key parameters that govern the dynamics of tumor cell populations when subjected to pharmacological treatments. While these treatments often lead to an initial reduction in the abundance…

Applications · Statistics 2024-03-21 Kevin Leder , Ruping Sun , Zicheng Wang , Xuanming Zhang

We propose small-variance asymptotic approximations for the inference of tumor heterogeneity (TH) using next-generation sequencing data. Understanding TH is an important and open research problem in biology. The lack of appropriate…

Methodology · Statistics 2015-11-17 Yanxun Xu , Peter Mueller , Yuan Yuan , Kamalakar Gulukota , Yuan Ji

Statistical machine learning methods, especially nonparametric Bayesian methods, have become increasingly popular to infer clonal population structure of tumors. Here we describe the treeCRP, an extension of the Chinese restaurant process…

Populations and Evolution · Quantitative Biology 2014-08-14 Amit G. Deshwar , Shankar Vembu , Quaid Morris

Tumors often contain multiple subpopulations of cancerous cells defined by distinct somatic mutations. We describe a new method, PhyloWGS, that can be applied to WGS data from one or more tumor samples to reconstruct complete genotypes of…

Populations and Evolution · Quantitative Biology 2015-01-08 Amit G. Deshwar , Shankar Vembu , Christina K. Yung , Gun Ho Jang , Lincoln Stein , Quaid Morris

Multi-state models of cancer natural history are widely used for designing and evaluating cancer early detection strategies. Calibrating such models against longitudinal data from screened cohorts is challenging, especially when fitting…

Computation · Statistics 2025-08-14 Raphael Morsomme , Shannon Holloway , Marc Ryser , Jason Xu

In biomedical research, to obtain more accurate prediction results from a target study, leveraging information from multiple similar source studies is proved to be useful. However, in many biomedical applications based on real-world data,…

Methodology · Statistics 2025-12-29 Xiaokang Liu , Jie Hu , Naimin Jing , Yang Ning , Cheng Yong Tang , Runze Li , Yong Chen

Statistical inference on the cancer-site specificities of collective ultra-rare whole genome somatic mutations is an open problem. Traditional statistical methods cannot handle whole-genome mutation data due to their…

Methodology · Statistics 2023-01-02 Saptarshi Chakraborty , Zoe Guan , Colin B. Begg , Ronglai Shen

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

Cancer is a number of related yet highly heterogeneous diseases. Correct identification of cancer subtypes is critical for clinical decisions. The advance in sequencing technologies has made it possible to study cancer based on abundant…

Applications · Statistics 2018-11-27 Xiaochun Chen , Honggang Wang , Donghui Yan

The reconstruction of phylogenetic trees from mixed populations has become important in the study of cancer evolution, as sequencing is often performed on bulk tumor tissue containing mixed populations of cells. Recent work has shown how to…

Data Structures and Algorithms · Computer Science 2016-04-12 Mohammed El-Kebir , Gryte Satas , Layla Oesper , Benjamin J. Raphael

Programmers often reuse code from source code repositories to reduce the development effort. Code clones are candidates for reuse in exploratory or rapid development, as they represent often repeated functionality in software systems. To…

Software Engineering · Computer Science 2020-12-08 Muhammad Hammad , Önder Babur , Hamid Abdul Basit , Mark van den Brand

The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations…

Methodology · Statistics 2012-03-20 Zhongyang Zhang , Kenneth Lange , Chiara Sabatti

Cancer arises from successive rounds of mutations which generate tumor cells with different genomic variation i.e. clones. For drug responsiveness and therapeutics, it is necessary to identify the clones in tumor sample accurately. Many…

Genomics · Quantitative Biology 2015-03-03 Gholamreza Haffari , Zhaoxiang Cai , Mohammad S. Rahman , Ann E. Nicholson

We aim to understand the evolution of the genetic composition of cancer cell populations. To achieve this, we consider an individual-based model representing a cell population where cells divide, die and mutate along the edges of a finite…

Probability · Mathematics 2025-02-18 Vianney Brouard

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

Clustering is one of the most widely used procedures in the analysis of microarray data, for example with the goal of discovering cancer subtypes based on observed heterogeneity of genetic marks between different tissues. It is well-known…

Methodology · Statistics 2009-04-21 Heng Lian

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