Figure 1.

Flowchart of the study design: filtering steps of the targeted-WES analysis. The genes with significant and Sanger validated SNVs/Indels identified in the Italian cohort (IPOI) were screened using the same approach in a second cohort of French American POI patients (FPOI, PPOI, BPOI). The genes appointed in both cohorts were subject to Burden test analysis and the shared genes were selected as candidates for POI. POI, primary ovarian insufficiency; SNV, single-nucleotide variant; WES, whole exome sequencing.