Fig. 1: Overview of the study.
From: Diverse monogenic subforms of human spermatogenic failure
DNA samples from NOA cases recruited in 11 centers across the world underwent WES to detect rare recessive variants underlying the disease. The identified Mendelian causes of NOA were additionally screened for in independent male infertility cohorts to map recurrent causes of NOA. An integrated analysis with scRNAseq atlas of adult human testis enabled to cluster the molecular NOA causes into ‘subforms’ that go beyond the visual classification of the disease based on histological findings. Map image created by Serhii Brovko and used under license from iStock.
