Fig. 3

Overview of information flow and activities, including original evaluation of the patient and candidate variant identification to model organism (MO) studies. Outputs include pathogenicity assessment and, in some cases, a “deeper dive” into the underlying mechanism. Proposed Model Organism Network (MON) activities include identifying disease mechanisms for additional genes through collaborations with other model organism experts. The red box indicates potential interactions with ongoing gene discovery programs such as the Centers for Mendelian Genomics (CMG) or its future equivalents