To diagnose a genetic disorder, a clinician needs to collect information from a variety of sources and correlate them with the patient phenotype. Calling our our experience conducting research in an academic environment alongside our software development skills we are working with the The Andrew’s group at the John Curtin Medical Research School, Australian National University to develop Delve: an open-source platform to streamline the clinical genomics workflow.
Delve enables automatic aggregation of information from disparate online/local sources into a single, unified platform. The project adopts a modular microservice architecture. Each source module of delve provides a well defined interface to a genomics data resource (e.g. OMIM, clinVAR, pubMED, …) via a gRPC API. These sources are then combined via a metasearch service. Users can query the metasearch service to retrieve unified data from all source modules.