Creating an Ontology-Based Human Phenotyping System: The Rockefeller University Bleeding History Experience
Article first published online: 6 OCT 2009
© 2009 Wiley Periodicals, Inc.
Clinical and Translational Science
Volume 2, Issue 5, pages 382–385, October 2009
How to Cite
Mauer, A. C., Barbour, E. M., Khazanov, N. A., Levenkova, N., Mollah, S. A. and Coller, B. S. (2009), Creating an Ontology-Based Human Phenotyping System: The Rockefeller University Bleeding History Experience. Clinical and Translational Science, 2: 382–385. doi: 10.1111/j.1752-8062.2009.00147.x
- Issue published online: 26 OCT 2009
- Article first published online: 6 OCT 2009
- bleeding disorders;
- bleeding symptoms;
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.