Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencing
Rui Guo,
Chunhong Duan,
Mehdi Zarrei
et al.
Abstract:Background
Congenital heart disease (CHD) is the most common type of birth defects. Genetic factors are the important contributor to the etiology of CHD. However, the underlying genetic causes in most individuals remain unclear.
Methods
101 individuals with CHD and their unaffected parents were included in this study. Chromosome microarray analysis (CMA) as a first-tier clinical diagnostic tool was applied for all affected individuals, followed by trio-based whole exome sequencing (WES). The function of the… Show more
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