Progress in genetic testing in congenital heart disease

The coverage of variants yielded by testing technologies is indicated. Structural variants may entail duplications, deletions, and unbalanced insertions, while positional changes may involve balanced translocations, insertions, or inversions. Credit: Science China Press Congenital heart disease (CHD) includes a variety of structural malformations affecting the heart and blood vessels. With growing understanding of the molecular processes involved in heart development, genetic variants have been proven to play a crucial role in the development of CHD. Researchers have identified a range of genetic variations associated with both syndromic and non-syndromic CHD, Read More