Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

ABSTRACT:

Rationale

Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis.

Objective

To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD.

Methods and results

We studied 538 CHD trios using genome-wide dense single nucleotide polymorphism arrays and whole exome sequencing. Results were experimentally validated using digital droplet polymerase chain reaction. We compared validated CNVs in CHD cases with CNVs in 1301 healthy control trios. The 2 complementary high-resolution technologies identified 63 validated de novo CNVs in 51 CHD cases. A significant increase in CNV burden was observed when comparing CHD trios with healthy trios, using either single nucleotide polymorph

SUBMITTER: Glessner JT 

PROVIDER: S-EPMC4209190 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature