gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases在孟德尔基因-疾病网络分析显示功能模块、复杂和环境的疾病.pdfVIP
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gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases在孟德尔基因-疾病网络分析显示功能模块、复杂和环境的疾病
Gene-Disease Network Analysis Reveals Functional Modules in Mendelian, Complex and Environmental Diseases 1 2¤ 1 1 1 Anna Bauer-Mehren , Markus Bundschus , Michael Rautschka , Miguel A. Mayer , Ferran Sanz , Laura I. Furlong1* 1 Research Programme on Biomedical Informatics (GRIB), IMIM (Hospital del Mar Research Institute), Universitat Pompeu Fabra, Barcelona, Spain, 2 Institute for Computer Science, Ludwig-Maximilians-University Munich, Munich, Germany Abstract Background: Scientists have been trying to understand the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some diseases, it has become evident that it is not enough to obtain a catalogue of the disease-related genes but to uncover how disruptions of molecular networks in the cell give rise to disease phenotypes. Moreover, with the unprecedented wealth of information available, even obtaining such catalogue is extremely difficult. Principal Findings: We developed a comprehensive gene-disease association database by integrating associations from several sources that cover different biomedical aspects of diseases. In particular, we focus on the current knowledge of human genetic diseases including mendelian, complex and environmental diseases. To assess the concept of modularity of human diseases, we performed a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis. The results indicate a highly shared genetic origin of human diseases and show that for most diseases, including mendelian, complex and environ
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