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Fig. 5 | Genome Biology

Fig. 5

From: Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Fig. 5

Analysis of the 46,XY DSD cohort: singletons versus trios and patients with a DSD of unknown origin. a, b Singleton or trio analysis of patients with 46,XY DSD. Individuals with 46,XY DSD were either analyzed as a singletons (215 patients) or b trios/duos. The proportion of patients with a DSD variant was higher for singletons than for trios: 68% (128 patients) versus 50% (31 patients). Singletons and trios had a similar genetic diagnostic rate (pathogenic or likely pathogenic variant) at 43 and 41%, respectively. A higher proportion of singletons had a DSD variant classified as VUS (17% of all variants in singleton) compared to trios (8% in trio analyses). c, d Gene variants reveal biological basis of 46,XY DSD. Only limited clinical information was often available for 133 origin unknown patients (c) and 46 hypospadias patients (d). Based on their curated DSD variants, these patients have been assessed on the categories of DSD gene function. In cases where a patient had variants in multiple genes, the variant with the highest classification (pathogenic > likely pathogenic > VUS) was taken into consideration. Variants annotated VUS were also included in this analysis

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