Creating an ontology-based human phenotyping system: The Rockefeller University bleeding history experience.
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.
Mauer
Andreas C
AC
The Rockefeller University, New York, New York, USA. amauer@rockefeller.edu <amauer@rockefeller.edu>
Barbour
Edward M
EM
Khazanov
Nickolay A
NA
Levenkova
Natasha
N
Mollah
Shamim A
SA
Coller
Barry S
BS
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