Figure 1.

Flow of genome‐phenome data in the RD‐Connect Genome‐Phenome Analysis Platform. Clinical scientists submit their data to the RD‐Connect GPAP wherein it is processed through a standard analysis pipeline. The variants identified are returned to the user via a user‐friendly interface where they can undertake filtration and prioritization to diagnose their rare disease cases. This effort is supported by the integration of data from a large variety of external resources, and through live links via APIs to other resources. When an inconclusive but interesting result is found, patient matchmaking may be performed using the Matchmaker Exchange API to query other similar resources around the world