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Inferring new relations between medical entities using literature curated term co-occurrences.

ABSTRACT: Objectives:Identifying new relations between medical entities, such as drugs, diseases, and side effects, is typically a resource-intensive task, involving experimentation and clinical trials. The increased availability of related data and curated knowledge enables a computational approach to this task, notably by training models to predict likely relations. Such models rely on meaningful representations of the medical entities being studied. We propose a generic features vector representation that leverages co-occurrences of medical terms, linked with PubMed citations. Materials and Methods:We demonstrate the usefulness of the proposed representation by inferring two types of relations: a drug causes a side effect and a drug treats an indication. To predict these relations and assess their effectiveness, we applied 2 modeling approaches: multi-task modeling using neural networks and single-task modeling based on gradient boosting machines and logistic regression. Results:These trained models, which predict either side effects or indications, obtained significantly better results than baseline models that use a single direct co-occurrence feature. The results demonstrate the advantage of a comprehensive representation. Discussion:Selecting the appropriate representation has an immense impact on the predictive performance of machine learning models. Our proposed representation is powerful, as it spans multiple medical domains and can be used to predict a wide range of relation types. Conclusion:The discovery of new relations between various medical entities can be translated into meaningful insights, for example, related to drug development or disease understanding. Our representation of medical entities can be used to train models that predict such relations, thus accelerating healthcare-related discoveries.

SUBMITTER: Spiro A

PROVIDER: S-EPMC6951958 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Analysing the relationships between biomolecules and the genetic diseases is a highly active area of research, where the aim is to identify the genes and their products that cause a particular disease due to functional changes originated from mutations. Biological ontologies are frequently employed in these studies, which provides researchers with extensive opportunities for knowledge discovery through computational data analysis. In this study, a novel approach is proposed for the identification of relationships between biomedical entities by automatically mapping phenotypic abnormality defining HPO terms with biomolecular function defining GO terms, where each association indicates the occurrence of the abnormality due to the loss of the biomolecular function expressed by the corresponding GO term. The proposed HPO2GO mappings were extracted by calculating the frequency of the co-annotations of the terms on the same genes/proteins, using already existing curated HPO and GO annotation sets. This was followed by the filtering of the unreliable mappings that could be observed due to chance, by statistical resampling of the co-occurrence similarity distributions. Furthermore, the biological relevance of the finalized mappings were discussed over selected cases, using the literature. The resulting HPO2GO mappings can be employed in different settings to predict and to analyse novel gene/protein-ontology term-disease relations. As an application of the proposed approach, HPO term-protein associations (i.e., HPO2protein) were predicted. In order to test the predictive performance of the method on a quantitative basis, and to compare it with the state-of-the-art, CAFA2 challenge HPO prediction target protein set was employed. The results of the benchmark indicated the potential of the proposed approach, as HPO2GO performance was among the best (Fmax = 0.35). The automated cross ontology mapping approach developed in this work may be extended to other ontologies as well, to identify unexplored relation patterns at the systemic level. The datasets, results and the source code of HPO2GO are available for download at: https://github.com/cansyl/HPO2GO.

Dataset Information

Inferring new relations between medical entities using literature curated term co-occurrences.

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