Figure 1.
Framework for studies “toward personalized genomic interpretations” (TPGI). MALO: More severe than expected for disease; As expected for disease; Less severe than expected for disease, and Opposite phenotype. *Gene selection by any broadly relevant set of panels such as PanelApp established for 100 000 Genomes Project interpretations50 suggested to include additional categories less relevant to phenotypes (as in current study) to control for methodological biases. Where TPGI demonstrates evidence of relevance across a patient cohort, this supports attention to a subsequent “for personalized genomic interpretations” (FPGI) stage to be developed within mainstream medicine. WES, whole exome sequencing; WGS, whole genome sequencing.