Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD

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. In...

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Bibliographic Details
Published in:BMC medical informatics and decision making 2019-01, Vol.19 (Suppl 1), p.20-9, Article 20
Main Authors: Chen, Guocai, Jia, Yuxi, Zhu, Lisha, Li, Ping, Zhang, Lin, Tao, Cui, Jim Zheng, W
Format: Article
Language:English
Subjects:
Biomedical research
Cancer therapies
Case reports
Chronic obstructive pulmonary disease
Clinical medicine
Comorbidity
COPD
Disease connection
Disease prevention
Diseases
Drug discovery
Drugs
Fingerprints
Gene fingerprint model
Gene Ontology
Genes
Humans
Hypoxia
Indexing
Knowledge Discovery
Lung cancer
Lung diseases
Mathematical models
Medical Subject Headings-MeSH
Medical treatment
Models, Theoretical
Obstructive lung disease
PubMed
Pulmonary Disease, Chronic Obstructive - epidemiology
Pulmonary Disease, Chronic Obstructive - genetics
Respiratory distress syndrome
Sarcoidosis
Thoracic surgery
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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. 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. We also illustrated an efficient way to reveal the implicit connections between COPD and other diseases based on this model. We 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%. The results demonstrate the effectiveness of the gene fingerprint model for diseases on the basis of medical literature.
ISSN:1472-6947
1472-6947
DOI:10.1186/s12911-019-0738-7