Application of whole-exon sequencing in congenital heart disease
Congenital heart disease (CHD) is a common birth defect with high lethality, and its pathogenesis involves both genetic and non-genetic factors. Genetic factors such as gene mutations lead to heart development disorders by changing cell proliferation, apoptosis, and other processes. Molecular diagnosis of the underlying genetic factors is a research hotspot in this field. Whole-exome sequencing can identify possible pathogenic genes of genetic diseases, and help to elucidate the genetic mechanism of CHD development. Because of its high sequence coverage, short sequencing cycle, and low cost, whole-exome sequencing has been widely used in detecting genetic disorders. This paper reviews the use of whole-exome sequencing in non-syndromic and syndromic CHD to investigate its utility in exploring the genetics of congenital cardiac developmental defects.
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