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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

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 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

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

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

In this dissertation, we develop nonparametric Bayesian models for biomedical data analysis. In particular, we focus on inference for tumor heterogeneity and inference for missing data. First, we present a Bayesian feature allocation model…

Applications · Statistics 2019-09-23 Tianjian Zhou

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

We develop a feature allocation model for inference on genetic tumor variation using next-generation sequencing data. Specifically, we record single nucleotide variants (SNVs) based on short reads mapped to human reference genome and…

Applications · Statistics 2015-09-15 Juhee Lee , Peter Müller , Kamalakar Gulukota , Yuan Ji

Cancers follow a clonal Darwinian evolution, with fitter subclones replacing more quiescent cells, ultimately giving rise to macroscopic disease. High-throughput genomics provides the opportunity to investigate these processes and determine…

Quantitative Methods · Quantitative Biology 2014-10-07 Sakellarios Zairis , Hossein Khiabanian , Andrew J. Blumberg , Raul Rabadan

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

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

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

Most of major algorithms for phylogenetic tree reconstruction assume that sequences in the analyzed set either do not have any offspring, or that parent sequences can maximally mutate into just two descendants. The graph resulting from such…

Populations and Evolution · Quantitative Biology 2013-10-09 Piotr Plonski , Jan P. Radomski

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…

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 reconstruction of phylogenetic networks is an important but challenging problem in phylogenetics and genome evolution, as the space of phylogenetic networks is vast and cannot be sampled well. One approach to the problem is to solve the…

Populations and Evolution · Quantitative Biology 2023-04-14 Louxin Zhang , Niloufar Abhari , Caroline Colijn , Yufeng Wu

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

The reconstruction of phylogenetic trees from mixed populations has become important in the study of cancer evolution, as sequencing is often performed on bulk tumor tissue containing mixed populations of cells. Recent work has shown how to…

Data Structures and Algorithms · Computer Science 2016-04-12 Mohammed El-Kebir , Gryte Satas , Layla Oesper , Benjamin J. Raphael

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

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu
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