Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

CONCLUSIONS: 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.PMID:36849876 | DOI:10.1002/mgg3.2160

Source: Molecular Medicine - February 28, 2023 Category: Molecular Biology Authors: Rai-Hseng Hsu Chen-Hao Lee Yin-Hsiu Chien Shuan-Pei Lin Miao-Zi Hung Nai-Chi Chen Yi-Lin Lin Wuh-Liang Hwu Ni-Chung Lee Source Type: research