Creating an ontology-based human phenotyping system: The Rockefeller University bleeding history experience

Clin Transl Sci. 2009 Oct;2(5):382-5. doi: 10.1111/j.1752-8062.2009.00147.x.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Computational Biology / methods
  • Databases, Factual
  • Hemorrhage / diagnosis*
  • Hemorrhage / pathology*
  • Humans
  • Internet
  • Phenotype*
  • Software
  • Surveys and Questionnaires
  • User-Computer Interface