Fig. 1From: Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variantsOverview of the filtering process of potential causative variants for POI. The genetic panel included 28 POI candidate genes. A total of 772 variants were identified by panel testing, of which 226 variants had rare allele frequencies (< 0.1%), including 22 pathogenic (P) variants and 57 likely pathogenic [9] variants. Among the patients carrying P or LP variants, 71 cases could be explained by monogenic variants and 9 cases had oligogenic variants located in more than one gene. Finally, 61 variants (18 pathogenic and 43 likely pathogenic) were filtered and confirmed by Sanger sequencing. MAF: minor allele frequency; P: pathogenic; LP: likely pathogenic; VUS: variant of uncertain significance; CADD: combined annotation dependent depletion; DANN: deleterious annotation of genetic variants using neural networks; SNV: single-nucleotide variantBack to article page