title: Creating an ontology-based human phenotyping system: The Rockefeller University bleeding history experience.
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.
authors.affiliation: The Rockefeller University, New York, New York, USA. amauer@rockefeller.edu <amauer@rockefeller.edu>
authors.forename: Andreas C
authors.initials: AC
authors.lastname: Mauer
authors.forename: Edward M
authors.initials: EM
authors.lastname: Barbour
authors.forename: Nickolay A
authors.initials: NA
authors.lastname: Khazanov
authors.forename: Natasha
authors.initials: N
authors.lastname: Levenkova
authors.forename: Shamim A
authors.initials: SA
authors.lastname: Mollah
authors.forename: Barry S
authors.initials: BS
authors.lastname: Coller
mesh_terms: D019295:Computational Biology / Q000379:methods; D016208:Databases, Factual; D006470:Hemorrhage / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D020407:Internet; D010641:Phenotype; D012984:Software; D011795:Surveys and Questionnaires; D014584:User-Computer Interface