Abstract
BackgroundDisease comorbidity is very common and has significant impact on disease treatment. Revealing the associations among diseases may help to understand the mechanisms of diseases, improve the prevention and treatment of diseases, and support the discovery of new drugs or new uses of existing drugs.MethodsIn this paper, we introduced a mathematical model to represent gene related diseases with a series of associated genes based on the overrepresentation of genes and diseases in PubMed literature. We also illustrated an efficient way to reveal the implicit connections between COPD and other diseases based on this model.ResultsWe applied this approach to analyze the relationships between Chronic Obstructive Pulmonary Disease (COPD) and other diseases under the Lung diseases branch in the Medical subject heading index system and detected 4 novel diseases relevant to COPD. As judged by domain experts, the F score of our approach is up to 77.6%.ConclusionsThe results demonstrate the effectiveness of the gene fingerprint model for diseases on the basis of medical literature.
Highlights
Disease comorbidity is very common and has significant impact on disease treatment
We introduce a mathematical model to represent gene related diseases with a series of associated genes based on PubMed literature and Medical Subject Headings (MeSH) [27]
Discussion & Conclusions In this project, we introduced a mathematical model based on the gene to PubMed mapping to characterize a disease, and the performance of this approach was evaluated with a case study of Chronic Obstructive Pulmonary Disease (COPD)
Summary
Disease comorbidity is very common and has significant impact on disease treatment. Revealing the associations among diseases may help to understand the mechanisms of diseases, improve the prevention and treatment of diseases, and support the discovery of new drugs or new uses of existing drugs. Methods: In this paper, we introduced a mathematical model to represent gene related diseases with a series of associated genes based on the overrepresentation of genes and diseases in PubMed literature. Conclusions: The results demonstrate the effectiveness of the gene fingerprint model for diseases on the basis of medical literature. Due to rapid advances in genomic technologies, genetic analyses have become vital in clinical practice and research to understand the gene-disease relationships. Revealing the associations between diseases and genes as well as between diseases may help to understand the mechanisms of diseases, improve the prevention
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