Fig. 5: Landscape of P/LP variants identified in known causative genes and novel POI-associated genes. | Nature Medicine

Fig. 5: Landscape of P/LP variants identified in known causative genes and novel POI-associated genes.

From: Landscape of pathogenic mutations in premature ovarian insufficiency

Fig. 5: Landscape of P/LP variants identified in known causative genes and novel POI-associated genes.The alt text for this image may have been generated using AI.

a, Contributions of each step, based on varying degrees of evidence, in the analytical pipeline in identifying P/LP variant in 1,030 patients with POI. In total, 193 patients had P/LP variants in known genes, and an additional 49 patients had P/LP variants in novel causative genes. b, Integrated matrix of P/LP variants and the 242 patients with detected variants. Rows are genes grouped by ovarian development stages, and columns are patients with POI. The upper panels show patient mutation load, phenotype information and mode of inheritance (MOI). The left panel shows the number of patients carrying P/LP variants in each gene. The right panels show the pLI, Mis-Z and raw P values of genes using one-sided Fisher’s exact tests.

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