Fig. 1: Study workflow.
From: Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
The scheme represents the overall workflow of the study. WGS and clinical data from Italian isolated populations have been combined to select putative HKOs. In case of positive genotype–phenotype correlation, preventive strategies could be applied, whereas whenever the correlation results negative, functional studies are needed to better clarify the role of the identified variant.
