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Fig. 1 | Journal of Ovarian Research

Fig. 1

From: Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

Fig. 1

Overview 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 variant

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