Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability(DD/ID)

To the Editor,Developmental delay or intellectual disability(DD/ID)is one of the most common neurodevelopmental disabilities worldwide with high clinical and genetic heterogeneity.Its etiology remains unexplained in nearly 70%of these patients,and an accurate diagnosis still poses a challenge in clinical practice.Previous DD/ID cohort studies mostly used panel sequencing or chromosome microarray analysis(CMA),but targeted capture probes could not be updated in time,resulting in an increased risk of missed detection of genetic abnormalities.