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In confirmatory cancer clinical trials, overall survival (OS) is normally a primary endpoint in the intention-to-treat (ITT) analysis under regulatory standards. After the tumor progresses, it is common that patients allocated to the…

Methodology · Statistics 2022-01-19 José L. Jiménez , Julia Niewczas , Alexander Bore , Carl-Fredrik Burman

Next-generation sequencing technologies allow the measurement of somatic mutations in a large number of patients from the same cancer type. One of the main goals in analyzing these mutations is the identification of mutations associated…

Quantitative Methods · Quantitative Biology 2016-09-13 Tommy Hansen , Fabio Vandin

Breast cancer is a serious disease that inflicts millions of people each year, and the number of cases is increasing. Early detection is the best way to reduce the impact of the disease. Researchers have developed many techniques to detect…

Artificial Intelligence · Computer Science 2023-11-23 Mosab S. M. Farea , zhe chen

The emergence of a predominant phenotype within a cell population is often triggered by a rare accumulation of DNA mutations in a single cell. For example, tumors may be initiated by a single cell in which multiple mutations cooperate to…

Tissues and Organs · Quantitative Biology 2018-11-21 Philip Greulich , Benjamin D. Simons

Accurate prediction of cancer type and primary tumor site is critical for effective diagnosis, personalized treatment, and improved outcomes. Traditional models struggle with the complexity of genomic and clinical data, but quantum…

Quantitative Methods · Quantitative Biology 2025-06-30 Don Roosan , Rubayat Khan , Md Rahatul Ashakin , Tiffany Khou , Saif Nirzhor , Mohammad Rifat Haider

Understanding cancer cell differentiation is essential for advancing its detection, diagnosis, and treatment. Mathematical models significantly contribute to this by providing a theoretical framework to understand the complex interactions…

Tissues and Organs · Quantitative Biology 2025-08-18 Marcela V. Reale , Gustavo Paccosi , David H. Margarit , Lilia Romanelli

Medical imaging is a critical initial tool used by clinicians to determine a patient's cancer diagnosis, allowing for faster intervention and more reliable patient prognosis. At subsequent stages of patient diagnosis, genetic information is…

Computer Vision and Pattern Recognition · Computer Science 2025-12-03 Rahul Mehta

Motivation: Driver (epi)genomic alterations underlie the positive selection of cancer subpopulations, which promotes drug resistance and relapse. Even though substantial heterogeneity is witnessed in most cancer types, mutation accumulation…

Identifying driver genes is crucial for understanding oncogenesis and developing targeted cancer therapies. Driver discovery methods using protein or pathway networks rely on traditional network science measures, focusing on nodes, edges,…

Molecular Networks · Quantitative Biology 2024-10-01 Rodrigo Henrique Ramos , Yago Augusto Bardelotte , Cynthia de Oliveira Lage Ferreira , Adenilso Simao

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

While meta-analyzing retrospective cancer patient cohorts, an investigation of differences in the expressions of target oncogenes across cancer subtypes is of substantial interest because the results may uncover novel tumorigenesis…

Methodology · Statistics 2023-07-03 Subharup Guha , David C. Christiani , S. V. Subramanian , Yi Li

Motivation. Understanding the pan-cancer mutational landscape offers critical insights into the molecular mechanisms underlying tumorigenesis. While patient-level machine learning techniques have been widely employed to identify tumor…

Machine Learning · Computer Science 2025-08-29 Yifan Dou , Adam Khadre , Ruben C Petreaca , Golrokh Mirzaei

Building prediction models for outcomes of clinical relevance when only a limited number of mutational features are available causes considerable challenges due to the sparseness and low-dimensionality of the data. In this article, we…

Genomics · Quantitative Biology 2022-12-13 Maya Ramchandran , Maayan Baron

The diagnosis and segmentation of tumors using any medical diagnostic tool can be challenging due to the varying nature of this pathology. Magnetic Reso- nance Imaging (MRI) is an established diagnostic tool for various diseases and…

Computer Vision and Pattern Recognition · Computer Science 2017-11-01 Tanvi Gupta , Pranay Manocha , Tapan K. Gandhi , RK Gupta , BK Panigrahi

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

The complicated, evolving landscape of cancer mutations poses a formidable challenge to identify cancer genes among the large lists of mutations typically generated in NGS experiments. The ability to prioritize these variants is therefore…

Gene expression analysis is a critical method for cancer classification, enabling precise diagnoses through the identification of unique molecular signatures associated with various tumors. Identifying cancer-specific genes from gene…

Quantitative Methods · Quantitative Biology 2024-10-11 Farzana Tabassum , Sabrina Islam , Siana Rizwan , Masrur Sobhan , Tasnim Ahmed , Sabbir Ahmed , Tareque Mohmud Chowdhury

Advancing the discovery of prognostic cancer biomarkers is crucial for comprehending disease mechanisms, refining treatment plans, and improving patient outcomes. This study introduces Weighted Gene Topological Data Analysis (WGTDA), an…

Quantitative Methods · Quantitative Biology 2024-02-15 Ndivhuwo Nyase , Lebohang Mashatola , Aviwe Kohlakala , Kahn Rhrissorrakrai , Stephanie Muller

Mutation testing is used to evaluate the effectiveness of test suites. In recent years, a promising variation called extreme mutation testing emerged that is computationally less expensive. It identifies methods where their functionality…

Software Engineering · Computer Science 2022-04-15 Maik Betka , Stefan Wagner

Mining gene expression profiles has proven valuable for identifying signatures serving as surrogates of cancer phenotypes. However, the similarities of such signatures across different cancer types have not been strong enough to conclude…

Genomics · Quantitative Biology 2020-01-01 Yingcheng Sun , Xiangru Liang , Kenneth Loparo