Face2Gene- DPDL integration

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

Current Scenario - F2G

DPDL

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

Proposed UI

REST API Face2Gene DPDL 1) Authentication: connect to DPDL server and obtain a token  e.g.: https://dpdl.org/api/auth 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.: https://dpdl.org/api/patients?token:""&data:{}                             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.: https://dpdl.org/api/upload_vcf?token:""&vcf_file=""&caseid=""                   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

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

Thank you 