Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios

Abstract excerpt

Congenital heart defects (CHD) are a common birth defect, affecting approximately 1% of newborn children in the United States. As previously reported, a significant number of CHD are potentially attributed to altered copy number variations (CNV). However, as many genomic variants are rare, a large scale CNV triad study is necessary to characterize the genetic architecture of CHD. We used whole exome sequencing...

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