Automated methods enable direct computation on phenotypic descriptions for novel candidate gene prediction

Abstract

1Natural language descriptions of plant phenotypes are a rich source of information for genetics and genomics research. We computationally translated descriptions of plant phenotypes into structured representations that can be analyzed to identify biologically meaningful associations. These repre-sentations include the EQ (Entity-Quality) formalism, which uses terms from biological ontologies to represent phenotypes in a standardized, semantically-rich format, as well as numerical vector representations generated using Natural Language Processing (NLP) methods (such as the bag-of-words approach and document embedding). We compared resulting phenotype similarity measures to those derived from manually curated data to determine the performance of each method. Computationally derived EQ and vector representations were comparably successful in recapitulating biological truth to representations created through manual EQ statement curation. Moreover, NLP methods for generating vector representations of phenotypes are scalable to large quantities of text because they require no human input. These results indicate that it is now possible to computationally and automatically produce and populate large-scale information resources that enable researchers to query phenotypic descriptions directly.