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Single-cell technologies have revolutionized biomedical research by enabling scalable measurement of the genome, transcriptome, and proteome of multiple systems at single-cell resolution. Now widely applied to cancer models, these assays…

Genomics · Quantitative Biology 2020-05-05 Allen W Zhang , Kieran R Campbell

The dynamics of tumour evolution are not well understood. In this paper we provide a statistical framework for evaluating the molecular variation observed in different parts of a colorectal tumour. A multi-sample version of the Ewens…

Populations and Evolution · Quantitative Biology 2010-04-26 A. D. Barbour , Simon Tavaré

Analysis of somatic mutation profiles from cancer patients is essential in the development of cancer research. However, the low frequency of most mutations and the varying rates of mutations across patients makes the data extremely…

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

We present a novel method for testing the hypothesis of equality of two correlation matrices using paired high-dimensional datasets. We consider test statistics based on the average of squares, maximum and sum of exceedances of Fisher…

Methodology · Statistics 2018-04-10 Adria Caballe , Natalia Bochkina , Claus Mayer , Ioannis Papastathopoulos

The Kolmogorov-Arnold stochasticity parameter technique is applied for the first time to the study of cancer genome sequencing, to reveal mutations. Using data generated by next generation sequencing technologies, we have analyzed the exome…

Genomics · Quantitative Biology 2018-11-05 V. G. Gurzadyan , H. Yan , G. Vlahovic , A. Kashin , P. Killela , Z. Reitman , S. Sargsyan , G. Yegorian , G. Milledge , B. Vlahovic

Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific…

Genomics · Quantitative Biology 2019-06-19 Ehsan Ebrahimzadeh , Maggie Engler , David Tse , Razvan Cristescu , Aslan Tchamkerten

In recent years, cancer genome sequencing and other high-throughput studies of cancer genomes have generated many notable discoveries. In this review, Novel genomic alteration mechanisms, such as chromothripsis (chromosomal crisis) and…

Genomics · Quantitative Biology 2014-09-12 Edwin Wang

While we once thought of cancer as single monolithic diseases affecting a specific organ site, we now understand that there are many subtypes of cancer defined by unique patterns of gene mutations. These gene mutational data, which can be…

Quantitative Methods · Quantitative Biology 2017-03-07 Jipeng Qiang , Wei Ding , John Quackenbush , Ping Chen

Mutational signatures connect characteristic mutational patterns in the genome with biological or chemical processes that take place in cancers. Analysis of mutational signatures can help elucidate tumor evolution, prognosis, and…

Genomics · Quantitative Biology 2024-12-09 Matúš Medo , Charlotte K. Y. Ng , Michaela Medová

The accumulation of somatic mutations is a driver of cancer and has long been associated with ageing. Due to limitations in quantifying mutation burden with age in non-cancerous tissues, the impact of somatic mutations in other ageing…

Genomics · Quantitative Biology 2023-07-31 Kasit Chatsirisupachai , João Pedro de Magalhães

Motivation: Human cancer is caused by the accumulation of somatic mutations in tumor suppressors and oncogenes within the genome. In the case of oncogenes, recent theory suggests that there are only a few key "driver" mutations responsible…

Genomics · Quantitative Biology 2013-07-16 Gregory Ryslik , Yuwei Cheng , Kei-Hoi Cheung , Yorgo Modis , Hongyu Zhao

Research into somatic mutations in cancer cell DNA and their role in tumour growth and progression between successive stages is crucial for improving our understanding of cancer evolution. Mathematical and computer modelling can provide…

Populations and Evolution · Quantitative Biology 2024-02-26 Andrzej Polanski , Mateusz Kania , Jarosław Gil , Wojciech Łabaj , Ewa Lach , Agnieszka Szczęsna

Somatic mutations, or alterations in DNA of a somatic cell, are key markers of cancer. In recent years, mutational signature analysis has become a prominent field of study within cancer research, commonly with Nonnegative Matrix…

Quantitative Methods · Quantitative Biology 2025-07-01 Iris Lang , Jenna Landy , Giovanni Parmigiani

The somatic mutations in the pathways that drive cancer development tend to be mutually exclusive across tumors, providing a signal for distinguishing driver mutations from a larger number of random passenger mutations. This mutual…

Quantitative Methods · Quantitative Biology 2016-07-11 Mark D. M. Leiserson , Matthew A. Reyna , Benjamin J. Raphael

The analysis of cancer omics data is a "classic" problem, however, still remains challenging. Advancing from early studies that are mostly focused on a single type of cancer, some recent studies have analyzed data on multiple "related"…

Methodology · Statistics 2022-12-01 Yifan Sun , Yu Jiang , Yang Li , Shuangge Ma

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

A key challenge in genomics is to identify genetic variants that distinguish patients with different survival time following diagnosis or treatment. While the log-rank test is widely used for this purpose, nearly all implementations of the…

Quantitative Methods · Quantitative Biology 2013-09-18 Fabio Vandin , Alexandra Papoutsaki , Benjamin J. Raphael , Eli Upfal

Background: Current research suggests that a small set of "driver" mutations are responsible for tumorigenesis while a larger body of "passenger" mutations occurs in the tumor but does not progress the disease. Due to recent pharmacological…

Genomics · Quantitative Biology 2013-10-30 Gregory Ryslik , Yuwei Cheng , Kei-Hoi Cheung , Robert Bjornson , Daniel Zelterman , Yorgo Modis , Hongyu Zhao

Nuanced cancer patient care is needed, as the development and clinical course of cancer is multifactorial with influences from the general health status of the patient, germline and neoplastic mutations, co-morbidities, and environment. To…

Quantitative Methods · Quantitative Biology 2023-09-26 Ali Firooz , Avery T. Funkhouser , Julie C. Martin , W. Jeffery Edenfield , Homayoun Valafar , Anna V. Blenda