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.
![Screenshot 2024-05-03 at 11 35 31 AM](https://private-user-images.githubusercontent.com/45885321/327837006-72e8c7f9-9d3f-4f83-9829-0b7dbe7d9a70.png?jwt=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.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._af0AjTe0e7cKXzJHCSa2eSxOLvuL818-aA4BiheAIQ)
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.
![Screenshot 2024-05-03 at 11 39 25 AM](https://private-user-images.githubusercontent.com/45885321/327840505-d03ff105-d1c9-4acf-b7f1-7768dccc7741.png?jwt=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.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.mh_UVWuElzjUuvBbhxj3N_4tESfx3qJtSvDeEH1lQNQ)
ADD/SELECT PATIENT & EDIT PATIENT Will open a patient chooser/input dialog.
![Screenshot 2024-05-03 at 11 38 44 AM](https://private-user-images.githubusercontent.com/45885321/327840603-1715d20a-647f-4dc0-9e74-6c36cf5e9c54.png?jwt=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.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.WI3Ilb59d9mr2qPq-7tlikdVTmsVolrO5a9yvMpXmMw)
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.
![Screenshot 2024-05-03 at 11 52 19 AM](https://private-user-images.githubusercontent.com/45885321/327840925-64704eb9-0791-49e4-ae8b-fb61325a2526.png?jwt=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.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.7g3s6p0pc7LwGi7hNNFdE6hyUVC0qVZ6j0aLvgwRRYY)
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.
![Screenshot 2024-05-03 at 11 44 34 AM](https://private-user-images.githubusercontent.com/45885321/327841154-dc90e930-4361-4d42-b64b-54b4058a6211.png?jwt=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.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.VAmG2PsoDQNeVmalNAb6NxiiiQPr_bdSgVeNMYv24cY)
After comparrison populations can be filtered on or off of the chart via the chart filter options.
![Screenshot 2024-05-03 at 11 45 19 AM](https://private-user-images.githubusercontent.com/45885321/327841190-a94f0356-170c-4e1c-ba08-070ad4b862c2.png?jwt=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.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.p9CjlKe4X0TJEWayXpeKex5Slj5fHIucGHl5rEec7UA)