BackgroundResearch on disease-disease association (DDA), like comorbidity and complication, provides important insights into disease treatment and drug discovery, and a large body of the literature has been published in the field. However, using current search tools, it is not easy for researchers to retrieve information on the latest DDA findings. First, comorbidity and complication keywords pull up large numbers of PubMed studies. Second, disease is not highlighted in search results. Finally, DDA is not identified, as currently no disease-disease association extraction (DDAE) dataset or tools are available.ObjectiveAs there are no available DDAE datasets or tools, this study aimed to develop (1) a DDAE dataset and (2) a neural network model for extracting DDA from the literature.MethodsIn this study, we formulated DDAE as a supervised machine learning classification problem. To develop the system, we first built a DDAE dataset. We then employed two machine learning models, support vector machine and convolutional neural network, to extract DDA. Furthermore, we evaluated the effect of using the output layer as features of the support vector machine-based model. Finally, we implemented large margin context-aware convolutional neural network architecture to integrate context features and convolutional neural networks through the large margin function.ResultsOur DDAE dataset consisted of 521 PubMed abstracts. Experiment results showed that the support vector machine-based approach achieved an F1 measure of 80.32%, which is higher than the convolutional neural network-based approach (73.32%). Using the output layer of convolutional neural network as a feature for the support vector machine does not further improve the performance of support vector machine. However, our large margin context-aware-convolutional neural network achieved the highest F1 measure of 84.18% and demonstrated that combining the hinge loss function of support vector machine with a convolutional neural network into a single neural network architecture outperforms other approaches.ConclusionsTo facilitate the development of text-mining research for DDAE, we developed the first publicly available DDAE dataset consisting of disease mentions, Medical Subject Heading IDs, and relation annotations. We developed different conventional machine learning models and neural network architectures and evaluated their effects on our DDAE dataset. To further improve DDAE performance, we propose an large margin context-aware-convolutional neural network model for DDAE that outperforms other approaches.

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BACKGROUND Research on disease-disease association (DDA), like comorbidity and complication, provides important insights into disease treatment and drug discovery, and a large body of the literature has been published in the field. However, using current search tools, it is not easy for researchers to retrieve information on the latest DDA findings. First, comorbidity and complication keywords pull up large numbers of PubMed studies. Second, disease is not highlighted in search results. Finally, DDA is not identified, as currently no disease-disease association extraction (DDAE) dataset or tools are available. OBJECTIVE As there are no available DDAE datasets or tools, this study aimed to develop (1) a DDAE dataset and (2) a neural network model for extracting DDA from the literature. METHODS In this study, we formulated DDAE as a supervised machine learning classification problem. To develop the system, we first built a DDAE dataset. We then employed two machine learning models, support vector machine and convolutional neural network, to extract DDA. Furthermore, we evaluated the effect of using the output layer as features of the support vector machine-based model. Finally, we implemented large margin context-aware convolutional neural network architecture to integrate context features and convolutional neural networks through the large margin function. RESULTS Our DDAE dataset consisted of 521 PubMed abstracts. Experiment results showed that the support vector machine-based approach achieved an F1 measure of 80.32%, which is higher than the convolutional neural network-based approach (73.32%). Using the output layer of convolutional neural network as a feature for the support vector machine does not further improve the performance of support vector machine. However, our large margin context-aware-convolutional neural network achieved the highest F1 measure of 84.18% and demonstrated that combining the hinge loss function of support vector machine with a convolutional neural network into a single neural network architecture outperforms other approaches. CONCLUSIONS To facilitate the development of text-mining research for DDAE, we developed the first publicly available DDAE dataset consisting of disease mentions, Medical Subject Heading IDs, and relation annotations. We developed different conventional machine learning models and neural network architectures and evaluated their effects on our DDAE dataset. To further improve DDAE performance, we propose an large margin context-aware-convolutional neural network model for DDAE that outperforms other approaches.

BACKGROUND Research on disease-disease association, like comorbidity and complication, provides important insights into disease treatment and drug discovery, and a large body of literature has been published in the field. However, using current search tools, it is not easy for researchers to retrieve information on the latest disease association findings. For one thing, comorbidity and complication keywords pull up large numbers of PubMed studies. Secondly, disease is not highlighted in search results. Third, disease-disease association (DDA) is not identified, as currently no DDA extraction dataset or tools are available. OBJECTIVE Since there are no available disease-disease association extraction (DDAE) datasets or tools, we aim to develop (1) a DDAE dataset and (2) a neural network model for extracting DDAs from literature. METHODS In this study, we formulate DDAE as a supervised machine learning classification problem. To develop the system, we first build a DDAE dataset. We then employ two machine-learning models, support vector machine (SVM) and convolutional neural network (CNN), to extract DDAs. Furthermore, we evaluate the effect of using the output layer as features of the SVM-based model. Finally, we implement large margin context-aware convolutional neural network (LC-CNN) architecture to integrate context features and CNN through the large margin function. RESULTS Our DDAE dataset consists of 521 PubMed abstracts. Experiment results show that the SVM-based approach achieves an F1-measure of 80.32%, which is higher than the CNN-based approach (73.32%). Using the output layer of CNN as a feature for SVM does not further improve the performance of SVM. However, our LC-CNN achieves the highest F1-measure of 84.18%, and demonstrates combining the hinge loss function of SVM with CNN into a single NN architecture outperforms other approaches. CONCLUSIONS To facilitate the development of text-mining research for DDAE, we develop the first publicly available DDAE dataset consisting of disease mentions, MeSH IDs and relation annotations. We develop different conventional ML models and NN architectures, and evaluate their effects on our DDAE dataset. To further improve DDAE performance, we propose an LC-CNN model for DDAE that outperforms other approaches.