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- Copyright
- © 2014 American Heart Association, Inc.
- ISSN
- 0009-7330
- eISSN
- 1524-4571
- DOI
- 10.1161/CIRCRESAHA.115.304458
- pmid
- 25205790
- Publisher site
- See Article on Publisher Site
Abstract
Clinical Track Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data Joseph T. Glessner,* Alexander G. Bick,* Kaoru Ito,* Jason G. Homsy,* Laura Rodriguez-Murillo, Menachem Fromer, Erica Mazaika, Badri Vardarajan, Michael Italia, Jeremy Leipzig, Steven R. DePalma, Ryan Golhar, Stephan J. Sanders, Boris Yamrom, Michael Ronemus, Ivan Iossifov, A. Jeremy Willsey, Matthew W. State, Jonathan R. Kaltman, Peter S. White, Yufeng Shen, Dorothy Warburton, Martina Brueckner, Christine Seidman,† Elizabeth Goldmuntz,† Bruce D. Gelb,† Richard Lifton,† Jonathan Seidman,† Hakon Hakonarson,† Wendy K. Chung† 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
Journal
Circulation Research – Wolters Kluwer Health
Published: Oct 1, 2014