PPPred: Classifying Protein-phenotype Co-mentions Extracted from Biomedical Literature

The MEDLINE database provides an extensive source of scientific articles and heterogeneous biomedical information in the form of unstructured text. One of the most important knowledge present within articles are the relations between human proteins and their phenotypes, which can stay hidden due to the exponential growth of publications. This has presented a range of opportunities for the development of computational methods to extract these biomedical relations from the articles. However, currently, no such method exists for the automated extraction of relations involving human proteins and human phenotype ontology (HPO) terms. In our previous work, we developed a comprehensive database composed of all co-mentions of proteins and phenotypes. In this study, we present a supervised machine learning approach called PPPred (Protein-Phenotype Predictor) for classifying the validity of a given sentence-level co-mention. Using an in-house developed gold standard dataset, we demonstrate that PPPred significantly outperforms several baseline methods. This two-step approach of co-mention extraction and classification constitutes a complete biomedical relation extraction pipeline for extracting protein-phenotype relations.