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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

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

We present TreeClone, a latent feature allocation model to reconstruct tumor subclones subject to phylogenetic evolution that mimics tumor evolution. Similar to most current methods, we consider data from next-generation sequencing of tumor…

Applications · Statistics 2017-10-26 Tianjian Zhou , Subhajit Sengupta , Peter Mueller , Yuan Ji

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

Tumor samples are heterogeneous. They consist of different subclones that are characterized by differences in DNA nucleotide sequences and copy numbers on multiple loci. Heterogeneity can be measured through the identification of the…

Methodology · Statistics 2014-09-26 Juhee Lee , Peter Mueller , Subhajit Sengupta , Kamalakar Gulukota , Yuan Ji

A tumor often consists of multiple cell subpopulations (clones). Current chemo-treatments often target one clone of a tumor. Although the drug kills that clone, other clones overtake it and the tumor reoccurs. Genome sequencing and…

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

The majority of cancer treatments end in failure due to Intra-Tumor Heterogeneity (ITH). ITH in cancer is represented by clonal evolution where different sub-clones compete with each other for resources under conditions of Darwinian natural…

Tumours develop in an evolutionary process, in which the accumulation of mutations produces subpopulations of cells with distinct mutational profiles, called clones. This process leads to the genetic heterogeneity widely observed in tumour…

Applications · Statistics 2017-02-07 Francesco Marass , Florent Mouliere , Ke Yuan , Nitzan Rosenfeld , Florian Markowetz

Tumor cells acquire different genetic alterations during the course of evolution in cancer patients. As a result of competition and selection, only a few subgroups of cells with distinct genotypes survive. These subgroups of cells are often…

Applications · Statistics 2018-03-20 Li Zeng , Joshua L. Warren , Hongyu Zhao

The genomic evolution inherent to cancer relates directly to a renewed focus on the voluminous next generation sequencing (NGS) data, and machine learning for the inference of explanatory models of how the (epi)genomic events are…

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…

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

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

Cancer results from a sequence of genetic and epigenetic changes which lead to a variety of abnormal phenotypes including increased proliferation and survival of somatic cells, and thus, to a selective advantage of pre-cancerous cells. The…

Populations and Evolution · Quantitative Biology 2011-12-05 Erik A. Martens , R. Kostadinov , Carlo C. Maley , Oskar Hallatschek

The emergence and development of cancer is a consequence of the accumulation over time of genomic mutations involving a specific set of genes, which provides the cancer clones with a functional selective advantage. In this work, we model…

Machine Learning · Computer Science 2017-03-10 Daniele Ramazzotti , Marco S. Nobile , Paolo Cazzaniga , Giancarlo Mauri , Marco Antoniotti

We discuss a cancer hallmark network framework for modelling genome-sequencing data to predict cancer clonal evolution and associated clinical phenotypes. Strategies of using this framework in conjunction with genome sequencing data in an…

Molecular Networks · Quantitative Biology 2014-08-12 Edwin Wang , Naif Zaman , Shauna Mcgee , Jean-Sébastien Milanese , Ali Masoudi-Nejad , Maureen O'Connor

For a genomically unstable cancer, a single tumour biopsy will often contain a mixture of competing tumour clones. These tumour clones frequently differ with respect to their genomic content (copy number of each gene) and structure (order…

Genomics · Quantitative Biology 2015-04-28 Andrew McPherson , Andrew Roth , Gavin Ha , Sohrab P. Shah , Cedric Chauve , S. Cenk Sahinalp

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

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

Motivation: As cancer researchers have come to appreciate the importance of intratumor heterogeneity, much attention has focused on the challenges of accurately profiling heterogeneity in individual patients. Experimental technologies for…

Genomics · Quantitative Biology 2018-02-07 Theodore Roman , Lu Xie , Russell Schwartz
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