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Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. The overall diagnostic rate was 31.8%. Dermatological disorders, skeletal disorders, and neurodevelopmental disorders disease categories, early age-of-onset, presence of consanguinity, and the presence of parental sequencing data were found to be correlated with a higher diagnostic rate. Nearly 68K variants were identified in our dataset at a higher frequency than that observed in gnomAD 4.0. Of these, 507 variants could be classified as likely benign, representing 0.04% of non-benign variants in ClinVar (507/1,433,904) and 0.20% of the non-benign ClinVar variants observed at least once in our cohort (507/276,777). The overall diagnostic rate is comparable to that observed in other large cohort studies with less diverse ethnic backgrounds.

This study examined the moderated mediating effect of teacher efficacy and resilience on the relationship between early childhood teachers' job satisfaction and teacher-child interactions. A survey was conducted on 409 early childhood teachers in Korea, and the collected data were analyzed using R 4.2.0 and the R version of PROCESSmacro 4.3. The results are as follows: first, early childhood teachers' job satisfaction had a positive effect on teacher efficacy and teacher-child interactions, and teacher efficacy had a positive effect on teacher-child interactions. Second, teacher efficacy had a positive mediating effect on the relationship between job satisfaction and teacher-child interactions. Third, resilience had a buffering moderating effect on the impact of job satisfaction on teacher efficacy. Lastly, the mediating effect of teacher efficacy on the relationship between early childhood teachers' job satisfaction and teacher-child interactions showed conditional effects depending on resilience. These results suggest the need to support the resilience of early childhood teachers as a part of their professionalism to connect the healthy professional life of early childhood teachers with the healthy growth of children. [ABSTRACT FROM AUTHOR]