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Integrating genome and functional genomics data to reveal perturbed signaling pathways in ovarian cancers.

Songjian Lu | Xinghua Lu
AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science | 2012

Cancers are genetic diseases, driven by somatic mutations that perturb cellular signaling systems. In this study, we aim to reveal the signal transduction pathways that are perturbed by mutations in ovarian cancer. Our approach searches for genetic mutations that lead to a common cellular response, e.g., differential expression of a set of functional related genes. To this end, we first developed a knowledge mining approach to identify functional expression modules; we then developed a graph-based data mining approach to identify mutations that are highly related to the functional modules, as a means to re-constitute signal pathways. Our results indicate that unification of knowledge mining with data mining significantly enhance identification of potential signaling pathways in ovarian cancers.

Pubmed ID: 22779056

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Associated grants

  • Agency: NLM NIH HHS, United States
    Id: R01 LM009153
  • Agency: NLM NIH HHS, United States
    Id: R01 LM010144
  • Agency: NLM NIH HHS, United States
    Id: R01 LM011155

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Ingenuity Pathways Knowledge Base (tool)

RRID:SCR_008117

A horizontally and vertically structured database that pulls scientific and medical information and describes it consistently using the Ingenuity Ontology. The Knowledge Base pulls information from journals, public molecular content databases, and textbooks. Data is curated and and integrated into the Knowledge Base .

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