Inference of Tumor Phylogenies from Genomic Assays on Heterogeneous Samples.

Tumorigenesis can in principle result from many combinations of mutations, but only a few roughly equivalent sequences of mutations, or 'progression pathways,' seem to account for most human tumors. Phylogenetics provides a promising way to identify common progression pathways and markers of those p...

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Published in:Journal of Biomedicine & Biotechnology Vol. 2012; pp. 1 - 17
Main Authors: Subramanian, Ayshwarya, Shackney, Stanley, Schwartz, Russell
Format: equations & formulas pictorial research tables/charts Journal Article
Published: Wiley-Blackwell 2012
Online Access:View this record in EBSCOhost
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      dt: 2012
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        atl: Inference of Tumor Phylogenies from Genomic Assays on Heterogeneous Samples.
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          Subramanian, Ayshwarya
          Shackney, Stanley
          Schwartz, Russell
        affil: Department of Biological Sciences, Carnegie Mellon University, Pittsburgh, PA 15213, USA
      sug:
        subj:
          Cytogenetic Analysis
          Genetic Markers
          Genomics
          Neoplasms Familial and Genetic
          Algorithms
          Bioinformatics
          Computer Simulation
          Disease Progression
          Factor Analysis
          Descriptive Statistics
          Funding Source
      ab: Tumorigenesis can in principle result from many combinations of mutations, but only a few roughly equivalent sequences of mutations, or 'progression pathways,' seem to account for most human tumors. Phylogenetics provides a promising way to identify common progression pathways and markers of those pathways. This approach, however, can be confounded by the high heterogeneity within and between tumors, which makes it difficult to identify conserved progression stages or organize them into robust progression pathways. To tackle this problem, we previously developed methods for inferring progression stages from heterogeneous tumor profiles through computational unmixing. In this paper, we develop a novel pipeline for building trees of tumor evolution from the unmixed tumor data. The pipeline implements a statistical approach for identifying robust progression markers from unmixed tumor data and calling thosemarkers in inferred cell states. The result is a set of phylogenetic characters and their assignments in progression states to which we apply maximum parsimony phylogenetic inference to infer tumor progression pathways. We demonstrate the full pipeline on simulated and real comparative genomic hybridization (CGH) data, validating its effectiveness and making novel predictions of major progression pathways and ancestral cell states in breast cancers.
      pubtype: Academic Journal
      doctype:
        equations & formulas
        pictorial
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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