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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

Cancers evolve from mutation of a single cell with sequential clonal and subclonal expansion of somatic mutation acquisition. Inferring clonal and subclonal structures from bulk or single cell tumor genomic sequencing data has a huge impact…

Genomics · Quantitative Biology 2021-03-30 Xiguo Yuan , Yuan Zhao , Yang Guo , Linmei Ge , Wei Liu , Shiyu Wen , Qi Li , Zhangbo Wan , Peina Zheng , Tao Guo , Zhida Li , Martin Peifer , Yupeng Cun

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

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

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

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

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

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

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 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…

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

Changes in the number of copies of certain parts of the genome, known as copy number alterations (CNAs), due to somatic mutation processes are a hallmark of many cancers. This genomic complexity is known to be associated with poorer…

Genomics · Quantitative Biology 2024-08-26 Charles Gadd , Christopher Yau

The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations…

Methodology · Statistics 2012-03-20 Zhongyang Zhang , Kenneth Lange , Chiara Sabatti

Revealing the clonal composition of a single tumor is essential for identifying cell subpopulations with metastatic potential in primary tumors or with resistance to therapies in metastatic tumors. Sequencing technologies provide an…

Genomics · Quantitative Biology 2014-02-07 Francesco Strino , Fabio Parisi , Mariann Micsinai , Yuval Kluger

Cancer arises from successive rounds of mutations which generate tumor cells with different genomic variation i.e. clones. For drug responsiveness and therapeutics, it is necessary to identify the clones in tumor sample accurately. Many…

Genomics · Quantitative Biology 2015-03-03 Gholamreza Haffari , Zhaoxiang Cai , Mohammad S. Rahman , Ann E. Nicholson

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 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

Tumor cell populations can be thought of as being composed of homogeneous cell subpopulations, with each subpopulation being characterized by overlapping sets of single nucleotide variants (SNVs). Such subpopulations are known as subclones…

Applications · Statistics 2019-05-02 Tianjian Zhou , Peter Mueller , Subhajit Sengupta , Yuan Ji

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

Cancer is a genetic disorder whose clonal evolution can be monitored by tracking noisy genome-wide copy number variants. We introduce the Copy Number Stochastic Block Model (CN-SBM), a probabilistic framework that jointly clusters samples…

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