• Open Access

Creating an Ontology-Based Human Phenotyping System: The Rockefeller University Bleeding History Experience


AC Mauer (amauer@rockefeller.edu)


The lack of standardized methods for human phenotyping is a major obstacle in translational science. We have developed a bleeding history phenotyping system comprising an ontology, a questionnaire, a Web-based phenotype recording instrument (PRI), and a database. The ontology facilitates transparency, collaboration, aggregation of data, and data analysis. The integrated system allows investigators worldwide to use the PRI, add their de-identified data to the database, and query the aggregated data. Thus, this system can increase the power to detect genotype–phenotype–environment relationships and help new investigators begin their studies. We anticipate that this approach may be applicable to other disorders.