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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…

统计方法学 · 统计学 2014-09-26 Juhee Lee , Peter Mueller , Subhajit Sengupta , Kamalakar Gulukota , Yuan Ji

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…

基因组学 · 定量生物学 2015-03-03 Gholamreza Haffari , Zhaoxiang Cai , Mohammad S. Rahman , Ann E. Nicholson

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…

分子网络 · 定量生物学 2014-09-09 Edwin Wang , Jinfeng Zou , Naif Zaman , Lenore K. Beitel , Mark Trifiro , Miltiadis Paliouras

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…

基因组学 · 定量生物学 2018-02-07 Theodore Roman , Lu Xie , Russell Schwartz

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…

应用统计 · 统计学 2017-02-07 Francesco Marass , Florent Mouliere , Ke Yuan , Nitzan Rosenfeld , Florian Markowetz

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…

统计方法学 · 统计学 2012-03-20 Zhongyang Zhang , Kenneth Lange , Chiara Sabatti

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…

分子网络 · 定量生物学 2014-08-12 Edwin Wang , Naif Zaman , Shauna Mcgee , Jean-Sébastien Milanese , Ali Masoudi-Nejad , Maureen O'Connor

Rapid technological advances have allowed for molecular profiling across multiple omics domains from a single sample for clinical decision making in many diseases, especially cancer. As tumor development and progression are dynamic…

统计方法学 · 统计学 2022-02-11 Dongyan Yan , Subharup Guha

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…

应用统计 · 统计学 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu

The dynamics of tumour evolution are not well understood. In this paper we provide a statistical framework for evaluating the molecular variation observed in different parts of a colorectal tumour. A multi-sample version of the Ewens…

种群与进化 · 定量生物学 2010-04-26 A. D. Barbour , Simon Tavaré

A variety of genome-wide profiling techniques are available to probe complementary aspects of genome structure and function. Integrative analysis of heterogeneous data sources can reveal higher-level interactions that cannot be detected…

计算工程、金融与科学 · 计算机科学 2012-03-23 Leo Lahti , Martin Schäfer , Hans-Ulrich Klein , Silvio Bicciato , Martin Dugas

Mining gene expression profiles has proven valuable for identifying signatures serving as surrogates of cancer phenotypes. However, the similarities of such signatures across different cancer types have not been strong enough to conclude…

基因组学 · 定量生物学 2020-01-01 Yingcheng Sun , Xiangru Liang , Kenneth Loparo

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…

应用统计 · 统计学 2015-11-18 Irina Ostrovnaya , Venkatraman E. Seshan , Colin B. Begg

Explicit accounting for copy number alterations can dramatically improve mutation frequency estimates, leading to more accurate phylogeny reconstructions and subclone characterizations.

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…

统计方法学 · 统计学 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

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…

基因组学 · 定量生物学 2014-02-07 Francesco Strino , Fabio Parisi , Mariann Micsinai , Yuval Kluger

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…

应用统计 · 统计学 2017-10-26 Tianjian Zhou , Subhajit Sengupta , Peter Mueller , Yuan Ji

Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are…

基因组学 · 定量生物学 2012-05-07 Wentian Li , Annette Lee , Peter K Gregersen

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…

机器学习 · 计算机科学 2016-02-25 Daniele Ramazzotti

We present a nonparametric Bayesian method for disease subtype discovery in multi-dimensional cancer data. Our method can simultaneously analyse a wide range of data types, allowing for both agreement and disagreement between their…

基因组学 · 定量生物学 2013-04-16 Richard S. Savage , Zoubin Ghahramani , Jim E. Griffin , Paul Kirk , David L. Wild
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