Format

Send to

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

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

Author information

1
The Rockefeller University, New York, New York, USA. amauer@rockefeller.edu <amauer@rockefeller.edu>

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.

PMID:
20443924
PMCID:
PMC5350758
DOI:
10.1111/j.1752-8062.2009.00147.x
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center