Combining Evidence, Specificity, and Proximity towards the Normalization of Gene Ontology Terms in Text

Structured information provided by manual annotation of proteins with Gene Ontology concepts represents a high-quality reliable data source for the research community. However, a limited scope of proteins is annotated due to the amount of human resources required to fully annotate each individual gene product from the literature. We introduce a novel method for automatic identification of GO terms in natural language text. The method takes into consideration several features: (1) the evidence for a GO term given by the words occurring in text, (2) the proximity between the words, and (3) the specificity of the GO terms based on their information content. The method has been evaluated on the BioCreAtIvE corpus and has been compared to current state of the art methods. The precision reached 0.34 at a recall of 0.34 for the identified terms at rank 1. In our analysis, we observe that the identification of GO terms in the “cellular component†subbranch of GO is more accurate than for terms from the other two subbranches. This observation is explained by the average number of words forming the terminology over the different subbranches

Overview of the gene ontology task at BioCreative IV

Gene Ontology (GO) annotation is a common task among model organism databases (MODs) for capturing gene function data from journal articles. It is a time-consuming and labor-intensive task, and is thus often considered as one of the bottlenecks in literature curation. There is a growing need for semiautomated or fully automated GO curation techniques that will help database curators to rapidly and accurately identify gene function information in full-length articles. Despite multiple attempts in the past, few studies have proven to be useful with regard to assisting real-world GO curation. The shortage of sentence-level training data and opportunities for interaction between text-mining developers and GO curators has limited the advances in algorithm development and corresponding use in practical circumstances. To this end, we organized a text-mining challenge task for literature-based GO annotation in BioCreative IV. More specifically, we developed two subtasks: (i) to automatically locate text passages that contain GO-relevant information (a text retrieval task) and (ii) to automatically identify relevant GO terms for the genes in a given article (a concept-recognition task). With the support from five MODs, we provided teams with >4000 unique text passages that served as the basis for each GO annotation in our task data. Such evidence text information has long been recognized as critical for text-mining algorithm development but was never made available because of the high cost of curation. In total, seven teams participated in the challenge task. From the team results, we conclude that the state of the art in automatically mining GO terms from literature has improved over the past decade while much progress is still needed for computer-assisted GO curation. Future work should focus on addressing remaining technical challenges for improved performance of automatic GO concept recognition and incorporating practical benefits of text-mining tools into real-world GO annotation

Automated extension of biomedical ontologies

Developing and extending a biomedical ontology is a very demanding process, particularly because biomedical knowledge is diverse, complex and continuously changing and growing. Existing automated and semi-automated techniques are not tailored to handling the issues in extending biomedical ontologies. This thesis advances the state of the art in semi-automated ontology extension by presenting a framework as well as methods and methodologies for automating ontology extension specifically designed to address the features of biomedical ontologies.The overall strategy is based on first predicting the areas of the ontology that are in need of extension and then applying ontology learning and ontology matching techniques to extend them. A novel machine learning approach for predicting these areas based on features of past ontology versions was developed and successfully applied to the Gene Ontology. Methods and techniques were also specifically designed for matching biomedical ontologies and retrieving relevant biomedical concepts from text, which were shown to be successful in several applications.O desenvolvimento e extensão de uma ontologia biomédica é um processo muito exigente, dada a diversidade, complexidade e crescimento contínuo do conhecimento biomédico. As técnicas existentes nesta área não estão preparadas para lidar com os desafios da extensão de uma ontologia biomédica. Esta tese avança o estado da arte na extensão semi-automática de ontologias, apresentando uma framework assim como métodos e metodologias para a automação da extensão de ontologias especificamente desenhados tendo em conta as características das ontologias biomédicas. A estratégia global é baseada em primeiro prever quais as áreas da ontologia que necessitam extensão, e depois usá-las como enfoque para técnicas de alinhamento e aprendizagem de ontologias, com o objectivo de as estender. Uma nova estratégia de aprendizagem automática para prever estas áreas baseada em atributos de antigas versões de ontologias foi desenvolvida e testada com sucesso na Gene Ontology. Foram também especificamente desenvolvidos métodos e técnicas para o alinhamento de ontologias biomédicas e extracção de conceitos relevantes de texto, cujo sucesso foi demonstrado em várias aplicações.Fundação para a Ciência e a Tecnologi