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Recent tumor genome sequencing confirmed that one tumor often consists of multiple cell subpopulations (clones) which bear different, but related, genetic profiles such as mutation and copy number variation profiles. Thus far, one tumor has…

Molecular Networks · Quantitative Biology 2014-09-09 Edwin Wang , Jinfeng Zou , Naif Zaman , Lenore K. Beitel , Mark Trifiro , Miltiadis Paliouras

The hidden Markov model (HMM) is a generative model that treats sequential data under the assumption that each observation is conditioned on the state of a discrete hidden variable that evolves in time as a Markov chain. In this paper, we…

Artificial Intelligence · Computer Science 2011-09-07 Emanuele Coviello , Antoni B. Chan , Gert R. G. Lanckriet

We develop a feature allocation model for inference on genetic tumor variation using next-generation sequencing data. Specifically, we record single nucleotide variants (SNVs) based on short reads mapped to human reference genome and…

Applications · Statistics 2015-09-15 Juhee Lee , Peter Müller , Kamalakar Gulukota , Yuan Ji

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

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

Intratumor heterogeneity is often manifested by vascular compartments with distinct pharmacokinetics that cannot be resolved directly by in vivo dynamic imaging. We developed tissue-specific compartment modeling (TSCM), an unsupervised…

Quantitative Methods · Quantitative Biology 2017-02-08 Li Chen , Peter L. Choyke , Niya Wang , Robert Clarke , Zaver M. Bhujwalla , Elizabeth M. C. Hillman , Yue Wang

Most neoplastic tumors originate from a single cell, and their evolution can be genetically traced through lineages characterized by common alterations such as small somatic mutations (SSMs), copy number alterations (CNAs), structural…

Genomics · Quantitative Biology 2024-02-16 Jiaying Lai , Yunzhou Liu , Robert B. Scharpf , Rachel Karchin

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

Inevitably, almost all cancer patients develop resistance to targeted therapy. Intratumor heterogeneity (ITH) is a major cause of drug resistance. Mathematical models that explain experiments quantitatively is useful in understanding the…

Soft Condensed Matter · Physics 2021-08-16 Xin Li , D. Thirumalai

Cancer cell mutations occur when cells undergo multiple cell divisions, and these mutations can be spontaneous or environmentally-induced. The mechanisms that promote and sustain these mutations are still not fully understood. This study…

Dynamical Systems · Mathematics 2021-10-27 Maher Alwuthaynani , Raluca Eftimie , Dumitru Trucu

Major efforts to sequence cancer genomes are now occurring throughout the world. Though the emerging data from these studies are illuminating, their reconciliation with epidemiologic and clinical observations poses a major challenge. In the…

Populations and Evolution · Quantitative Biology 2010-11-18 Ivana Bozic , Tibor Antal , Hisashi Ohtsuki , Hannah Carter , Dewey Kim , Sining Chen , Rachel Karchin , Kenneth W. Kinzler , Bert Vogelstein , Martin A. Nowak

A major challenge for cancer pathologists is to determine whether a new tumor in a patient with cancer is a metastasis or an independent occurrence of the disease. In recent years numerous studies have evaluated pairs of tumor specimens to…

Applications · Statistics 2015-11-18 Irina Ostrovnaya , Venkatraman E. Seshan , Colin B. Begg

Personalized medicine is the future of medical practice. In oncology, tumor heterogeneity assessment represents a pivotal step for effective treatment planning and prognosis prediction. Despite new procedures for DNA sequencing and…

We present a mathematical study of the emergence of phenotypic heterogeneity in vascularised tumours. Our study is based on formal asymptotic analysis and numerical simulations of a system of non-local parabolic equations that describes the…

Tissues and Organs · Quantitative Biology 2021-03-26 Chiara Villa , Mark A. J. Chaplain , Tommaso Lorenzi

Chromosomal DNA is characterized by variation between individuals at the level of entire chromosomes (e.g., aneuploidy in which the chromosome copy number is altered), segmental changes (including insertions, deletions, inversions, and…

Applications · Statistics 2008-07-30 Robert B. Scharpf , Giovanni Parmigiani , Jonathan Pevsner , Ingo Ruczinski

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

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

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

Molecular data from tumor profiles is high dimensional. Tumor profiles can be characterized by tens of thousands of gene expression features. Due to the size of the gene expression feature set machine learning methods are exposed to noisy…

Machine Learning · Computer Science 2020-07-14 Martin Palazzo , Pierre Beauseroy , Patricio Yankilevich

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