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

ConclusionsThe 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.

Source: Molecular Genetics & Genomic Medicine - February 28, 2023 Category: Genetics & Stem Cells 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 Tags: ORIGINAL ARTICLE Source Type: research