Whole exome sequencing for developmental delay
and learning difficulties: abridged secondary publication
SLJ Kwok1, WLE Hau2, TF Chan3,4, FMI Lo2, LWE Fung5, SKW Tsui1,4
1School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong
2Clinical Genetic Service, Department of Health, Hong Kong
3School of Life Sciences, The Chinese University of Hong Kong, Hong Kong
4Hong Kong Bioinformatics Centre, The Chinese University of Hong Kong, Hong Kong
5Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong
1. Whole exome sequencing (WES) was performed
for 30 patient-parent trios of children with
undiagnosed developmental delay.
2. Our bioinformatics pipeline coupled with clinical review confirmed the diagnosis by de novo mutations or inherited compound heterozygous rare variants in seven (24%) patients. In addition, possible causative variants were found in three other patients.
3. WES is a cost-efficient method for management of patients with apparently undiagnosed developmental delay or learning difficulties after first-tier testing.
2. Our bioinformatics pipeline coupled with clinical review confirmed the diagnosis by de novo mutations or inherited compound heterozygous rare variants in seven (24%) patients. In addition, possible causative variants were found in three other patients.
3. WES is a cost-efficient method for management of patients with apparently undiagnosed developmental delay or learning difficulties after first-tier testing.