• DocumentCode
    3199715
  • Title

    eXtasy simplified-towards opening the black box

  • Author

    Popovic, Dusan ; Sifrim, Alejandro ; Moreau, Yves ; De Moor, Bart

  • Author_Institution
    Dept. of Electr. Eng., KU Leuven, Leuven, Belgium
  • fYear
    2013
  • fDate
    18-21 Dec. 2013
  • Firstpage
    24
  • Lastpage
    28
  • Abstract
    Exome sequencing remarkably simplifies the search for mutations causing rare monogenic disorders. Still, due to a big number of potential candidate variants, computational methods are needed to facilitate this process. Recently, an algorithm based on genomic data fusion has been proposed in this context (eXtasy), which exhibits highly competitive performances among the state of the art methods. Nonetheless, being based on a Random Forest classifier, its core model is characterized by a prohibitive size, slow execution speed and difficulties associated with gaining insights in the decision-making process. Here we propose a simplification of the original eXtasy algorithm that retains superior ranking capability of former without suffering from the both high complexity and low interpretability.
  • Keywords
    bioinformatics; decision making; genomics; learning (artificial intelligence); pattern classification; sensor fusion; decision-making process; eXtasy algorithm; exome sequencing; genomic data fusion; mutations; random forest classifier; Bioinformatics; Classification algorithms; Context; Data integration; Decision support systems; Genomics; Sequential analysis; decision trees; eXtasy; genomic data fusion; hybrid sequential system; interpretable model; random forest; rare genetic disorders; variant prioritization;
  • fLanguage
    English
  • Publisher
    ieee
  • Conference_Titel
    Bioinformatics and Biomedicine (BIBM), 2013 IEEE International Conference on
  • Conference_Location
    Shanghai
  • Type

    conf

  • DOI
    10.1109/BIBM.2013.6732713
  • Filename
    6732713