Whole genome sequencing in paediatric channelopathy and cardiomyopathy.

ABSTRACT:

Background

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

Methods

In a tertiary paediatric cardiology center, we recruited all patients diagnosed with cardiac channelopathy and cardiomyopathy between the ages of 0 and 18 years old, who had negative genetic findings with prior gene panel or exome-based testing. After genetic counselling, blood samples were collected from the subjects and bot

SUBMITTER: Kwok SY 

PROVIDER: S-EPMC10997036 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature