Circulation research
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Circulation research · Oct 2014
Clinical TrialIncreased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. ⋯ We demonstrate a significantly increased frequency of rare de novo CNVs in CHD patients compared with healthy controls and suggest several novel genetic loci for CHD.