SimFuse: A Novel Fusion Simulator for RNA Sequencing (RNA-Seq) Data.

The performance evaluation of fusion detection algorithms from high-throughput sequencing data crucially relies on the availability of data with known positive and negative cases of gene rearrangements. The use of simulated data circumvents some shortcomings of real data by generation of an unlimite...

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Publicado en:BioMed Research International Vol. 2015; pp. 1 - 6
Autores principales: Tan, Yuxiang, Tambouret, Yann, Monti, Stefano
Formato: algorithm equations & formulas research tables/charts Journal Article
Publicado: Wiley-Blackwell 12/29/2015
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 12/29/2015
      vid: 2015
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        10.1155/2015/780519
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        atl: SimFuse: A Novel Fusion Simulator for RNA Sequencing (RNA-Seq) Data.
      aug:
        au:
          Tan, Yuxiang
          Tambouret, Yann
          Monti, Stefano
        affil: Bioinformatics, Boston University, Boston, MA 02215, USA
      sug:
        subj:
          RNA
          Sequence Analysis
          Computer Simulation
          High-Throughput Screening Assays
          Sample Size
          Gene Rearrangement
          Algorithms
      ab: The performance evaluation of fusion detection algorithms from high-throughput sequencing data crucially relies on the availability of data with known positive and negative cases of gene rearrangements. The use of simulated data circumvents some shortcomings of real data by generation of an unlimited number of true and false positive events, and the consequent robust estimation of accuracy measures, such as precision and recall. Although a few simulated fusion datasets from RNA Sequencing (RNA-Seq) are available, they are of limited sample size. This makes it difficult to systematically evaluate the performance of RNA-Seq based fusion-detection algorithms. Here, we present SimFuse to address this problem. SimFuse utilizes real sequencing data as the fusions’ background to closely approximate the distribution of reads from a real sequencing library and uses a reference genome as the template from which to simulate fusions’ supporting reads. To assess the supporting read-specific performance, SimFuse generates multiple datasets with various numbers of fusion supporting reads. Compared to an extant simulated dataset, SimFuse gives users control over the supporting read features and the sample size of the simulated library, based on which the performance metrics needed for the validation and comparison of alternative fusion-detection algorithms can be rigorously estimated.
      pubtype: Academic Journal
      doctype:
        algorithm
        equations & formulas
        research
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        Journal Article
      ougenre: Article
    language: English
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