Simultaneous Identification of Causal Genes and Dys-Regulated Pathways in Complex Diseases

  • Yoo-Ah Kim
  • Stefan Wuchty
  • Teresa M. Przytycka
Part of the Lecture Notes in Computer Science book series (LNCS, volume 6044)


In complex diseases different genotypic perturbations of the cellular system often lead to the same phenotype. While characteristic genomic alterations in many cancers exist, other combinations of genomic perturbations potentially lead to the same disease, dysregulating important pathways of the cellular system. In this study, we developed novel computational methods to identify dysregulated pathways and their direct causes in individual patients or patient groups. Specifically, we introduced efficient and powerful graph theoretic algorithms to identify such dysregulated pathways and their causal genes and applied our methods to a large set of glioma specific molecular data.


Complex disease genetic variations copy number variation biological pathway graph theoretic algorithm glioma 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • Yoo-Ah Kim
    • 1
  • Stefan Wuchty
    • 1
  • Teresa M. Przytycka
    • 1
  1. 1.National Center for Biotechnology Information, NLM, NIHBethesda

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