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

Published in Circulation Research, 2014

Recommended citation: Glessner, J.T., Bick, A.G., Ito, K., Homsy, J., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., ... & Goldmuntz, E. (2014). Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research, 115(10), 884-896. https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.115.304458

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This study integrates SNP array and exome sequencing data to identify de novo copy number variants in congenital heart disease.