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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.IfeqqXS7if8SHMo2ucK2Lo_ni_st_rLE8gkmWX8qJcU)
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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.yBwehR1K5mpCxf1O2dCnIyCiIXZBiqIyM91LI36vgpQ)
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.eyJpc3MiOiJnaXRodWIuY29tIiwiYXVkIjoicmF3LmdpdGh1YnVzZXJjb250ZW50LmNvbSIsImtleSI6ImtleTUiLCJleHAiOjE3MjU5OTE3MjksIm5iZiI6MTcyNTk5MTQyOSwicGF0aCI6Ii80NTg4NTMyMS8zMjc4NDA2MDMtMTcxNWQyMGEtNjQ3Zi00ZGMwLTllNzQtNmMzNmNmNWU5YzU0LnBuZz9YLUFtei1BbGdvcml0aG09QVdTNC1ITUFDLVNIQTI1NiZYLUFtei1DcmVkZW50aWFsPUFLSUFWQ09EWUxTQTUzUFFLNFpBJTJGMjAyNDA5MTAlMkZ1cy1lYXN0LTElMkZzMyUyRmF3czRfcmVxdWVzdCZYLUFtei1EYXRlPTIwMjQwOTEwVDE4MDM0OVomWC1BbXotRXhwaXJlcz0zMDAmWC1BbXotU2lnbmF0dXJlPWQwNjk4YjM1NzU1NzMxZjZkMTYwYzEzYjlhOTYyNzdkNjM5ZWQxNWYyYTI2Zjc5MWYzYWZlYzBmZjI5YWEwZjcmWC1BbXotU2lnbmVkSGVhZGVycz1ob3N0JmFjdG9yX2lkPTAma2V5X2lkPTAmcmVwb19pZD0wIn0.PN966pQWinG-O8CF0_RZ-wzb73o-iNZQcuSetDd35pM)
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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.wgg3J_p2jcH3kaSYCofDgIprGqjW2qQcMdznRJW4BDY)
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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.FpCx34PuL6yZtkc-7PG7uVrR5CDz-ND-KadU31D5usI)
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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.yRT_ltEay5o9wuNwjA3QPeMSr3ETIEWPSkfCbRqq7IU)