Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development

Diagnostic yield of exome sequencing (ES) varies from 30%-50% for patients with mild to severe developmental delay (DD)/intellectual disability (ID). Routine retrospective reanalysis of data from undiagnosed have been increasing the total diagnostic yield by 10-15%. Here, we performed proband-only ES in 1065 patients with DD/ID and applied a prospective, daily reanalysis automated pipeline in patients without clinically significant variants to facilitate diagnosis.