Contract grant sponsors: FORGE (Finding Of Rare disease GEnes) Canada Consortium; Canadian Institutes of Health Research; Ontario Genomics Institute (OGI-049); Genome Quebec; Genome British Columbia; McLaughlin Centre; CIHR Catalyst grant; Ontario MEDI Genomes2Life grant.
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
Article first published online: 24 MAY 2013
© 2013 WILEY PERIODICALS, INC.
Volume 34, Issue 8, pages 1057–1065, August 2013
How to Cite
Girdea, M., Dumitriu, S., Fiume, M., Bowdin, S., Boycott, K. M., Chénier, S., Chitayat, D., Faghfoury, H., Meyn, M. S., Ray, P. N., So, J., Stavropoulos, D. J. and Brudno, M. (2013), PhenoTips: Patient Phenotyping Software for Clinical and Research Use. Hum. Mutat., 34: 1057–1065. doi: 10.1002/humu.22347
Communicated by Peter N. Robinson
- Issue published online: 15 JUL 2013
- Article first published online: 24 MAY 2013
- Accepted manuscript online: 1 MAY 2013 10:46AM EST
- Manuscript Accepted: 18 APR 2013
- Manuscript Received: 18 JAN 2013
- FORGE (Finding Of Rare disease GEnes) Canada Consortium
- Canadian Institutes of Health Research
- Ontario Genomics Institute. Grant Number: OGI-049
- Genome Quebec
- Genome British Columbia
- McLaughlin Centre
- CIHR Catalyst
- Ontario MEDI Genomes2Life
- clinical genetics;
- data standardization
We have developed PhenoTips: open source software for collecting and analyzing phenotypic information for patients with genetic disorders. Our software combines an easy-to-use interface, compatible with any device that runs a Web browser, with a standardized database back end. The PhenoTips’ user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during the patient encounter. Collected data include demographics, medical history, family history, physical and laboratory measurements, physical findings, and additional notes. Phenotypic information is represented using the Human Phenotype Ontology; however, the complexity of the ontology is hidden behind a user interface, which combines simple selection of common phenotypes with error-tolerant, predictive search of the entire ontology. PhenoTips supports accurate diagnosis by analyzing the entered data, then suggesting additional clinical investigations and providing Online Mendelian Inheritance in Man (OMIM) links to likely disorders. By collecting, classifying, and analyzing phenotypic information during the patient encounter, PhenoTips allows for streamlining of clinic workflow, efficient data entry, improved diagnosis, standardization of collected patient phenotypes, and sharing of anonymized patient phenotype data for the study of rare disorders. Our source code and a demo version of PhenoTips are available at http://phenotips.org.