Genomic analyses implicate noncoding de novo variants in congenital heart disease

A genetic etiology is identified for one third of congenital heart disease (CHD) patients, including 8% attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with 1,611 unaffected trio...

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Detalles Bibliográficos
Autores principales: Richter, Felix, Morton, Sarah U., Won Kim, Seong, Kitaygorodsky, Alexander, Wasson, Lauren K., Chen, Kathleen M., Zhou, Jian, Qi, Hongjian, Patel, Nihir, DePalma, Steven R., Parfenov, Michael, Homsy, Jason, Gorham, Joshua M., Manheimer, Kathryn B., Velinder, Matthew, Farrell, Andrew, Marth, Gabor, Schadt, Eric E., Kaltman, Jonathan R., Newburger, Jane W., Giardini, Alessandro, Goldmuntz, Elizabeth, Brueckner, Martina, Kim, Richard, Porter, George A., Bernstein, Daniel, Chung, Wendy K., Srivastava, Deepak, Tristani-Firouzi, Martin, Troyanskaya, Olga G., Dickel, Diane E., Shen, Yufeng, Seidman, Jonathan G., Seidman, Christine E., Gelb, Bruce D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415662/
https://www.ncbi.nlm.nih.gov/pubmed/32601476
http://dx.doi.org/10.1038/s41588-020-0652-z

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