FIGURE 1.

Current and REDBot approaches. (a) Current postdetection pipeline that includes annotation, interpretation, and reporting processes. It heavily relies on CNVs interpretation and diagnostic report generation by clinical laboratory geneticists. (b) The REDBot approaches. For postdetection pipeline, REDBot utilizes knowledge bases, evidence‐based interpretation methods, and CNVs reporting criteria to directly generate of clinical diagnostic reports. The periodic updating mainly focuses on applying NLP methods for analyzing in‐house historical clinical reports, and then, updating knowledge bases.