Identifying genotype-phenotype relationships in biomedical text

Abstract Background One important type of information contained in biomedical research literature is the newly discovered relationships between phenotypes and genotypes. Because of the large quantity of literature, a reliable automatic system to identify this information for future curation is essential. Such a system provides important and up to date data for database construction and updating, and even text summarization. In this paper we present a machine learning method to identify these genotype-phenotype relationships. No large human-annotated corpus of genotype-phenotype relationships currently exists. So, a semi-automatic approach has been used to annotate a small labelled training set and a self-training method is proposed to annotate more sentences and enlarge the training set. Results The resulting machine-learned model was evaluated using a separate test set annotated by an expert. The results show that using only the small training set in a supervised learning method achieves good results (precision: 76.47, recall: 77.61, F-measure: 77.03) which are improved by applying a self-training method (precision: 77.70, recall: 77.84, F-measure: 77.77). Conclusions Relationships between genotypes and phenotypes is biomedical information pivotal to the understanding of a patient’s situation. Our proposed method is the first attempt to make a specialized system to identify genotype-phenotype relationships in biomedical literature. We achieve good results using a small training set. To improve the results other linguistic contexts need to be explored and an appropriately enlarged training set is required