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

Andreas C. Mauer, Edward M. Barbour, Nickolay A. Khazanov, Natasha Levenkova, Shamim A. Mollah, Barry S. Coller

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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.

Original languageEnglish
Pages (from-to)382-385
Number of pages4
JournalClinical and translational science
Volume2
Issue number5
DOIs
StatePublished - Oct 2009

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