Enhanced disease-disease association with information enriched disease representation

Abstract

<abstract> <p>Objective: Quantification of disease-disease association (DDA) enables the understanding of disease relationships for discovering disease progression and finding comorbidity. For effective DDA strength calculation, there is a need to address the main challenge of integration of various biomedical aspects of DDA is to obtain an information rich disease representation. Materials and Methods: An enhanced and integrated DDA framework is developed that integrates enriched literature-based with concept-based DDA representation. The literature component of the proposed framework uses PubMed abstracts and consists of improved neural network model that classifies DDAs for an enhanced literaturebased DDA representation. Similarly, an ontology-based joint multi-source association embedding model is proposed in the ontology component using Disease Ontology (DO), UMLS, claims insurance, clinical notes etc. Results and Discussion: The obtained information rich disease representation is evaluated on different aspects of DDA datasets such as Gene, Variant, Gene Ontology (GO) and a human rated benchmark dataset. The DDA scores calculated using the proposed method achieved a high correlation mainly in gene-based dataset. The quantified scores also shown better correlation of 0.821, when evaluated on human rated 213 disease pairs. In addition, the generated disease representation is proved to have substantial effect on correlation of DDA scores for different categories of disease pairs. Conclusion: The enhanced context and semantic DDA framework provides an enriched disease representation, resulting in high correlated results with different DDA datasets. We have also presented the biological interpretation of disease pairs. The developed framework can also be used for deriving the strength of other biomedical associations.</p> </abstract>