Whole genome sequencing in paediatric channelopathy and cardiomyopathy

• DOI: 10.3389/fcvm.2024.1335527
• Publication Date: 2024-03-20T05:20:43Z
• Authors: Sit Yee Kwok; Anna Ka Yee Kwong; Julia Zhuo Shi; Connie Fong Ying ...; Mianne Lee; Christopher C. Y....; Martin Chui; Sabrina Tsao; Brian Hon Yin Chung
• Keywords: Channelopathy; Exome

Precision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel exome-based testing, whole genome sequencing (WGS) offers additional coverage at promoter, intronic regions mitochondrial genome. However, data on use of WGS evaluate genetic cause these cardiovascular conditions children adolescents are limited.