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