TY - JOUR
T1 - Creating an ontology-based human phenotyping system
T2 - The Rockefeller University bleeding history experience.
AU - Mauer, Andreas C.
AU - Barbour, Edward M.
AU - Khazanov, Nickolay A.
AU - Levenkova, Natasha
AU - Mollah, Shamim A.
AU - Coller, Barry S.
PY - 2009/10
Y1 - 2009/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77957730294&partnerID=8YFLogxK
U2 - 10.1111/j.1752-8062.2009.00147.x
DO - 10.1111/j.1752-8062.2009.00147.x
M3 - Article
C2 - 20443924
AN - SCOPUS:77957730294
SN - 1752-8054
VL - 2
SP - 382
EP - 385
JO - Clinical and translational science
JF - Clinical and translational science
IS - 5
ER -