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

Abstract Background 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...

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Main Authors: Guocai Chen, Yuxi Jia, Lisha Zhu, Ping Li, Lin Zhang, Cui Tao, W. Jim Zheng
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Informatics and Decision Making
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12911-019-0738-7
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author Guocai Chen
Yuxi Jia
Lisha Zhu
Ping Li
Lin Zhang
Cui Tao
W. Jim Zheng
author_facet Guocai Chen
Yuxi Jia
Lisha Zhu
Ping Li
Lin Zhang
Cui Tao
W. Jim Zheng
author_sort Guocai Chen
collection DOAJ
description Abstract Background 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. We also illustrated an efficient way to reveal the implicit connections between COPD and other diseases based on this model. Results 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%. Conclusions The results demonstrate the effectiveness of the gene fingerprint model for diseases on the basis of medical literature.
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spelling doaj.art-4eb02b36eb00487dbaf0208cf07281fa2022-12-22T01:21:03ZengBMCBMC Medical Informatics and Decision Making1472-69472019-01-0119S11910.1186/s12911-019-0738-7Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPDGuocai Chen0Yuxi Jia1Lisha Zhu2Ping Li3Lin Zhang4Cui Tao5W. Jim Zheng6School of Biomedical Informatics, University of Texas Health Science Center at HoustonSchool of Biomedical Informatics, University of Texas Health Science Center at HoustonSchool of Biomedical Informatics, University of Texas Health Science Center at HoustonDepartment of Development Pediatrics, The Second Affiliated Hospital of Jilin UniversityDepartment of Respiratory Medicine, The Second Affiliated Hospital of Jilin UniversitySchool of Biomedical Informatics, University of Texas Health Science Center at HoustonSchool of Biomedical Informatics, University of Texas Health Science Center at HoustonAbstract Background 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. We also illustrated an efficient way to reveal the implicit connections between COPD and other diseases based on this model. Results 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%. Conclusions The results demonstrate the effectiveness of the gene fingerprint model for diseases on the basis of medical literature.http://link.springer.com/article/10.1186/s12911-019-0738-7Disease connectionGene fingerprint modelChronic obstructive pulmonary diseaseCOPD
spellingShingle Guocai Chen
Yuxi Jia
Lisha Zhu
Ping Li
Lin Zhang
Cui Tao
W. Jim Zheng
Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD
BMC Medical Informatics and Decision Making
Disease connection
Gene fingerprint model
Chronic obstructive pulmonary disease
COPD
title Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD
title_full Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD
title_fullStr Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD
title_full_unstemmed Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD
title_short Gene fingerprint model for literature based detection of the associations among complex diseases: a case study of COPD
title_sort gene fingerprint model for literature based detection of the associations among complex diseases a case study of copd
topic Disease connection
Gene fingerprint model
Chronic obstructive pulmonary disease
COPD
url http://link.springer.com/article/10.1186/s12911-019-0738-7
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