Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Rai-Hseng HsuChen-Hao LeeYin-Hsiu ChienShuan-Pei LinMiao-Zi HungNai-Chi ChenYi-Lin LinPaul Wuh-Liang HwuHung-Chang LeePublished in: Molecular genetics & genomic medicine (2023)
The careful selection of patients by experienced geneticists and the exclusion of chromosomal aberrations raises the positive rate of the molecular diagnosis for CAs to 40%. However, more than half of the patients with CAs still do not have a genetic diagnosis by current technologies.