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High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

Cancer is one of the most feared diseases in the world it has increased disturbingly and breast cancer occurs in one out of eight women, the prediction of malignancies plays essential roles not only in revealing human genome, but also in…

Computational Engineering, Finance, and Science · Computer Science 2013-03-05 Ayad Ghany Ismaeel , Anar Auda Ablahad

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 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

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

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…

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…

Identifying altered pathways that are associated with specific cancer types can potentially bring a significant impact on cancer patient treatment. Accurate identification of such key altered pathways information can be used to develop…

Machine Learning · Statistics 2017-12-05 Sunho Park , Tae Hyun Hwang

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

Somatic variants can be used as lineage markers for the phylogenetic reconstruction of cancer evolution. Since somatic phylogenetics is complicated by sample heterogeneity, novel specialized tree-building methods are required for cancer…

Computational Engineering, Finance, and Science · Computer Science 2014-12-31 Victoria Popic , Raheleh Salari , Iman Hajirasouliha , Dorna Kashef-Haghighi , Robert B. West , Serafim Batzoglou

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

Identifying subgroups and properties of cancer biopsy samples is a crucial step towards obtaining precise diagnoses and being able to perform personalized treatment of cancer patients. Recent data collections provide a comprehensive…

Genomics · Quantitative Biology 2021-04-23 Stefan Groha , Caroline Weis , Alexander Gusev , Bastian Rieck

The advent of digital pathology presents opportunities for computer vision for fast, accurate, and objective solutions for histopathological images and aid in knowledge discovery. This work uses deep learning to predict genomic biomarkers -…

Computer Vision and Pattern Recognition · Computer Science 2021-03-16 Ruchi Chauhan , PK Vinod , CV Jawahar

Gene and protein networks are very important to model complex large-scale systems in molecular biology. Inferring or reverseengineering such networks can be defined as the process of identifying gene/protein interactions from experimental…

Machine Learning · Computer Science 2017-03-10 Stefano Beretta , Mauro Castelli , Ivo Goncalves , Ivan Merelli , Daniele Ramazzotti

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

Cancer evolves continuously over time through a complex interplay of genetic, epigenetic, microenvironmental, and phenotypic changes. This dynamic behavior drives uncontrolled cell growth, metastasis, immune evasion, and therapy resistance,…

Quantitative Methods · Quantitative Biology 2025-07-08 Luoting Zhuang , Stephen H. Park , Steven J. Skates , Ashley E. Prosper , Denise R. Aberle , William Hsu

Cancer is a complex disease driven by dynamic regulatory shifts that cannot be fully captured by individual molecular profiling. We employ a data-driven approach to construct a coarse-grained dynamic network model based on hallmark…

Quantitative Methods · Quantitative Biology 2025-02-28 Jiahe Wang , Yan Wu , Yuke Hou , Yang Li , Dachuan Xu , Changjing Zhuge , Yue Han

In order to analyze data from cancer genome sequencing projects, we need to be able to distinguish causative, or "driver," mutations from "passenger" mutations that have no selective effect. Toward this end, we prove results concerning the…

Populations and Evolution · Quantitative Biology 2013-02-13 Rick Durrett

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.…

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