The PTI has seven milestones that have been developed to deliver the outcomes. These are indicated on Fig. 1 (M1- M7). M1, M3 and M7 support the other program milestones. These are also shown on Fig 2.
Clinicians and Researchers can access the Genomics-Phenomics Discovery pipeline at several entry points. Examples include (1) Clinician with the genome sequence of a patient can request for the PTI team to produce a mouse model with the precise candidate causal gene variant and then work with the team to carry out functional analysis. (2) Researchers that have a mouse model containing the patient’s gene variant with a phenotype that supports causation in disease can request support to test medicines that may treat the disease phenotype in the mouse.