Figure 1
From: Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing
Schematic workflow used in this study. Recruited patients were classified into five categories based on the certainty of clinical diagnosis and the status of the prospective genotype. The patients in category I were screened by a single gene test, and those in categories II to V were screened by skeletal dysplasia–targeted exome sequencing (TES). Sequence variants obtained by TES were prioritized using a bioinformatics analysis along with correlation with clinical and laboratory findings, and a segregation test was performed for the variants. We assume that “confirmed” and “highly likely” variants were pathogenic in nature unless alternative methods were required to identify novel variants.
