This article is describing an open source software for collecting and analyzing phenotypic information for patients with genetic disorders (PhenoTips). The PhenoTips’ user interface resembles clinician workflows to facilitate recording observations made during the patient encounter.
It allows for efficient data entry, standardization of collected patient phenotypes, and sharing of anonymized patient phenotype data thus rendering it very useful for research collaborations in medical genetics/genomics. Examples of collected data include demographics, medical history, family history, physical and laboratory measurements, physical findings. The user interface combines simple selection of common phenotypes with error-tolerant predictive search of the Human Phenotype Ontology.
Besides the research applications, this tool can be useful at the level of diagnosis since it allows for analyzing the entered data and suggests additional clinical investigations/ providing OMIM links to likely disorders. The source code and a demo version are available at http://phenotips.org.
PhenoTips: patient phenotyping software for clinical and research use. Girdea et al. Hum Mutat. 2013 Aug;34(8):1057-65. PMID: 23636887
Posted by Yannis Trakadis, MD