1. Face2Gene- DPDL integration

2. Current Scenario We have three different systems: F2G, DPDL, PEDIA.
Workflow
F2G Clinic: Clinicians create a new case
F2G Clinic: Clinicians create a new case
F2G LAB: Get data from the clinic
F2G LAB: Get data from the clinic
DPDL: manually retrieve the data from F2G
DPDL: manually retrieve the data from F2G
PEDIA: manually trigger the workflow and update results to DPDL
PEDIA: manually trigger the workflow and update results to DPDL

3. Current Scenario - F2G

4. DPDL

5. Proposed Solution
To integrate F2G, DPDL and PEDIA – DPDL will provide a REST API that can be called from F2G LAB interface.
Workflow:
F2G Clinic: Clinicians create a new case
F2G LAB: Get data from the clinic and call the DPDL API to upload data and VCF file
DPDL: Parse the patient information, create a new case record and trigger PEDIA workflow
PEDIA : Send the top 10 prioritized gene list back to F2G

6. Proposed UI

7. REST API Face2Gene DPDL 1) Authentication:
connect to DPDL server and obtain a token 
e.g.:
Generate a secure token and send the same
2) Create new patient in DPDL
append the token with the request along with patient info as a json object:                                            
e.g.:
verify the token, if token has expired, send 401
if token valid, parse json and create a new patient record in the DPDL table
response:" patient data received, waiting for vcf file for further processing"
3) Upload VCF File
If vcf file available: upload the compressed file ,requires using the token and the case_id.    
e.g.:
verify token, if valid, save the vcf file in corresponding directory 
check if patient record and vcf available: if yes, trigger PEDIA service
response: if PEDIA processing successful, then json object with results, otherwise: appropriate code

8. Issues & Solution
All the manual steps needs to be accounted for : Need documentation
PEDIA current processing time ~30 min for 100,000 variants in the VCF
Need to find ways to optimize the workflow : Replace/Improve the tools in the workflow

9. Thank you 