An approach for discovering and exploring semantic relationships between genes

Nicoletta Dessì;PANI, MATTEO;Barbara Pes;Diego Reforgiato Recupero

2017-01-01

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Abstract

This paper presents an approach for extracting, integrating and mining the annotations from a large corpus of gene summaries. It includes: i) a method for extracting annotations from several ontologies, mapping them into concepts and evaluating the semantic relatedness of genes, ii) the definition of a NoSQL graph database that leverages a loosely structured and multifaceted organization of data for storing concepts and their relationships, and iii) a mechanism to support the customized exploration of stored information. A prototype with a user-friendly interface fully enables users to visualize all concepts of their interest and to take advantage of their visualization for formulating biomedical hypotheses and discovering new knowledge.