Fig. 2

De novo mutations are enriched in individuals with female infertility. a Distribution of coding DNMs per trio in probands. b Distribution of DNMs by mutation class for all infertile parent-child trios. c Enrichment of DNMs (95% confidence interval) by mutation class for probands and siblings. Mutation classes were labeled as the following terms: LOF (Loss-of-Function), mis (missense), prot (protein-altering = mis + LOF), and syn (synonymous). Expected number of DNMs was calculated by denovolyzeR and enrichment was calculated by observed number/expected number. P value and confidence interval were calculated by comparing the observed value to the expected value with Poisson test. d Maximum likelihood estimate (MLE) of risk genes. We estimated that 419 genes contribute to female infertility risk based on vulnerability to damaging DNMs