Fig. 3: Characteristics of NOA genes in the context of male infertility and the broader Mendelian disease landscape.
From: Diverse monogenic subforms of human spermatogenic failure
a Estimation of the total number of azoospermia genes. To detect 9.4% of genes recurrently in non-consanguineous cases with predominantly monogenic NOA, as seen in GEMINI, a gene pool of roughly 625 azoospermia genes would be expected. Blue area represents standard deviation around the mean of 1000 iterations. b Projected number of samples required for observing recurrent gene hits in NOA cohorts considering the estimated pool of 625 azoospermia genes and discovery rates of 76% for consanguineous cases, 20% for GEMINI overall (8% of consanguineous cases) and 15% for non-consanguineous cases. c High confidence protein-protein interactions between GEMINI genes and known male infertility disease genes from Oud et al. 20197 (Supplementary Data 5). d Expression patterns of NOA genes are distinct from that of known recessive Mendelian disease genes (n = 615) in the GTEx atlas of 52 human tissues. NOA genes are more likely to have maximum expression in testis (top panel) and greater testis-specific expression (lower panel). Center line, median; box limits, upper and lower quartiles; whiskers, 1.5× interquartile range; points, outliers.
