FIGURE 2.

Example of approach to optimise precision approaches to subjects using genomic information (adapted from [38]). As gene-associated endotypes (endophenotypes) are determined, this information may be combined with various sources of omic-derived data, such as transcriptomics and proteomics. Efforts to incorporate exogenous sources of influence, such as environmental or other exposures should also be made. Subsequent integrative analytic approaches may reveal that individuals with similar endophenotype (including pulmonary arterial hypertension (PAH)-specific mutation) ultimately segregate into different clusters of disease profile. They may have a similar endophenotype, but be biologically distinct and have different disease profiles. This may ultimately improve precision approaches to populations of subjects as well as individuals. BMPR2: bone morphogenetic protein receptor 2; TBX4: T-box transcription factor 4; SOX17: SRY-box transcription factor 17; UMAP: uniform manifold approximation and projection. Created using BioRender.com.