Figure 1
From: Point-of-care whole-exome sequencing of idiopathic male infertility
Eight consanguineous families with nonobstructive azoospermia (NOA). For each family, whole-exome sequencing was used to assess both affected siblings (black shaded boxes) with NOA plus at least one fertile male per family (the father and/or additional sibling(s) with children—denoted “with children” where applicable). A total of 37 individuals were sequenced (thick black borders), other family members appear in gray. Numbers inside boxes indicate number of siblings of a given sex (square, brothers; circle, sisters). For five families, candidate pathogenic variants explaining infertility were discovered. These are indicated in Human Genome Variation Society format for each family, and the segregation of the variant is shown under each sequenced individual, wild-type allele, variant allele; Y, signifying the variation is on the X chromosome in a male.
