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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

In recent years, cancer genome sequencing and other high-throughput studies of cancer genomes have generated many notable discoveries. In this review, Novel genomic alteration mechanisms, such as chromothripsis (chromosomal crisis) and…

Genomics · Quantitative Biology 2014-09-12 Edwin Wang

Recent advances in cancer research largely rely on new developments in microscopic or molecular profiling techniques offering high level of detail with respect to either spatial or molecular features, but usually not both. Here, we present…

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

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

Recent experimental evidence suggests that acute myeloid leukemias may originate from multiple clones of malignant cells. Nevertheless it is not known how the observed clones may differ with respect to cell properties such as proliferation…

Tissues and Organs · Quantitative Biology 2014-10-07 Thomas Stiehl , Natalia Baran , Anthony D. Ho , Anna Marciniak-Czochra

Due to the complexity of cancer, clustering algorithms have been used to disentangle the observed heterogeneity and identify cancer subtypes that can be treated specifically. While kernel based clustering approaches allow the use of more…

Machine Learning · Statistics 2018-11-21 Nora K. Speicher , Nico Pfeifer

Clusters of genes that have evolved by repeated segmental duplication present difficult challenges throughout genomic analysis, from sequence assembly to functional analysis. Improved understanding of these clusters is of utmost importance,…

Machine Learning · Computer Science 2010-01-25 Tomáš Vinař , Broňa Brejová , Giltae Song , Adam Siepel

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

The reconstruction of phylogenies from DNA or protein sequences is a major task of computational evolutionary biology. Common phenomena, notably variations in mutation rates across genomes and incongruences between gene lineage histories,…

Probability · Mathematics 2012-11-30 Elchanan Mossel , Sebastien Roch

Mutations can arise from the chance misincorporation of nucleotides during DNA replication or from DNA lesions that are not repaired correctly. We introduce a model that relates the source of mutations to their accumulation with cell…

Populations and Evolution · Quantitative Biology 2015-07-27 Ziyue Gao , Minyoung J. Wyman , Guy Sella , Molly Przeworski

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

Statistical consistency in phylogenetics has traditionally referred to the accuracy of estimating phylogenetic parameters for a fixed number of species as we increase the number of characters. However, as sequences are often of fixed length…

Populations and Evolution · Quantitative Biology 2010-04-09 Olivier Gascuel , Mike Steel

The way to infer well-supported phylogenetic trees that precisely reflect the evolutionary process is a challenging task that completely depends on the way the related core genes have been found. In previous computational biology studies,…

Identification of disease subtypes and corresponding biomarkers can substantially improve clinical diagnosis and treatment selection. Discovering these subtypes in noisy, high dimensional biomedical data is often impossible for humans and…

Quantitative Methods · Quantitative Biology 2020-05-18 Marc-Andre Schulz , Matt Chapman-Rounds , Manisha Verma , Danilo Bzdok , Konstantinos Georgatzis

Individual cancer cells carry a bewildering number of distinct genomic alterations i.e., copy number variations and mutations, making it a challenge to uncover genomic-driven mechanisms governing tumorigenesis. Here we performed…

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…

Molecular Networks · Quantitative Biology 2014-08-12 Edwin Wang , Naif Zaman , Shauna Mcgee , Jean-Sébastien Milanese , Ali Masoudi-Nejad , Maureen O'Connor

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…

Genomics · Quantitative Biology 2012-05-07 Wentian Li , Annette Lee , Peter K Gregersen

Ancestral sequence reconstruction is a key task in computational biology. It consists in inferring a molecular sequence at an ancestral species of a known phylogeny, given descendant sequences at the tip of the tree. In addition to its many…

Populations and Evolution · Quantitative Biology 2022-07-27 Brandon Legried , Sebastien Roch