Visit and demo/use here: SimPheny.iobio
SimPheny.iobio is a real time web application for exploring phenotypic similarity between individuals from multiple populations The application uses a combination of phenotype matching algorithms and visualization techniques to help users identify individuals with similar phenotypes. The application is designed to be used by clinicians & researchers to explore phenotypic similarity between individuals and to help interrogate undiagnosed cases of suspected genetic origin.
Users can input a list of phenotypes for an individual and the application will return a list of individuals with similar phenotypes in a visual representation.
ADD/SELECT PATIENT & EDIT PATIENT Will open a patient chooser/input dialog.
Additionally, users can explore cases from the available populations by selecting a case from the list of available cases within the patient chooser/input dialog.
Currently the application uses publically avaible information and supports comparison of phenotypes between individuals from the following populations:
- UDN: diagnosed cases such as those available through other sources see clinvar's submitted cases for more details
- Orphanet Disease Listings
Comparrison populations can be chosen from the radio selections on the upper bar.
After comparrison populations can be filtered on or off of the chart via the chart filter options.
