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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

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

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

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

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

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

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

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

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

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

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

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

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

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

During cancer progression, malignant cells accumulate somatic mutations that can lead to genetic aberrations. In particular, evolutionary events akin to segmental duplications or deletions can alter the copy-number profile (CNP) of a set of…

Genomics · Quantitative Biology 2020-02-27 Garance Cordonnier , Manuel Lafond

Challenges of assessing complexity and clonality in populations of mixed species arise in diverse areas of modern biology, including estimating diversity and clonality in microbiome populations, measuring patterns of T and B cell clonality,…

Methodology · Statistics 2014-08-07 Yi Liu , Andrew Z. Fire , Scott Boyd , Richard A. Olshen

Genomic aberrations, such as somatic copy number alterations, are frequently observed in tumor tissue. Recurrent aberrations, occurring in the same region across multiple subjects, are of interest because they may highlight genes associated…

Statistics Theory · Mathematics 2014-03-11 Vonn Walter , Fred A. Wright , Andrew B. Nobel

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…

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