Abstract
Background: Genome sequencing (GS) has recently been considered as a first-tier diagnostic tool for individuals with intellectual disability (ID) and developmental delay (DD). In this study, we assess the diagnostic yield of GS for a large cohort of children with ID/DD and describe variants contributing to genetic diagnoses in this cohort. Methods: A retrospective analysis of consecutive GS results for individuals under 18 years of age with a clinical indication of ID/DD was conducted using data from a clinical diagnostic laboratory. The present analysis included 666 individuals.
