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Identifying genes underlying cancer development is critical to cancer biology and has important implications across prevention, diagnosis and treatment. Cancer sequencing studies aim at discovering genes with high frequencies of somatic…

Applications · Statistics 2013-12-09 Jie Ding , Lorenzo Trippa , Xiaogang Zhong , Giovanni Parmigiani

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

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

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

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…

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

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

Analysis of somatic mutation profiles from cancer patients is essential in the development of cancer research. However, the low frequency of most mutations and the varying rates of mutations across patients makes the data extremely…

We propose small-variance asymptotic approximations for the inference of tumor heterogeneity (TH) using next-generation sequencing data. Understanding TH is an important and open research problem in biology. The lack of appropriate…

Methodology · Statistics 2015-11-17 Yanxun Xu , Peter Mueller , Yuan Yuan , Kamalakar Gulukota , Yuan Ji

Background: Intra-tumour heterogeneity (ITH) is the result of ongoing evolutionary change within each cancer. The expansion of genetically distinct sub-clonal populations may explain the emergence of drug resistance and if so would have…

Quantitative Methods · Quantitative Biology 2015-06-16 Roland F Schwarz , Anne Trinh , Botond Sipos , James D Brenton , Nick Goldman , 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

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…

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

As researchers collect increasingly large molecular data sets to reconstruct the Tree of Life, the heterogeneity of signals in the genomes of diverse organisms poses challenges for traditional phylogenetic analysis. A class of phylogenetic…

Populations and Evolution · Quantitative Biology 2015-09-11 Liang Liu , Zhenxiang Xi , Shaoyuan Wu , Charles Davis , Scott V. Edwards

We propose a statistical framework to integrate radiological magnetic resonance imaging (MRI) and genomic data to identify the underlying radiogenomic associations in lower grade gliomas (LGG). We devise a novel imaging phenotype by…

The ability of tumors to evolve and adapt by developing subclones in different genetic and epigenetic states is a major challenge in oncology. Traditional tools like multi-regional sequencing used to study tumor evolution and the resultant…

Phylogenies depicting the evolutionary history of genetically heterogeneous subpopulations of cells from the same cancer, i.e., cancer phylogenies, offer valuable insights about cancer development and guide treatment strategies. Many…

Populations and Evolution · Quantitative Biology 2024-07-11 E. Kulman , R. Kuang , Q. Morris

Medical imaging is a critical initial tool used by clinicians to determine a patient's cancer diagnosis, allowing for faster intervention and more reliable patient prognosis. At subsequent stages of patient diagnosis, genetic information is…

Computer Vision and Pattern Recognition · Computer Science 2025-12-03 Rahul Mehta

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

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
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