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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7415662/
https://ncbi.nlm.nih.gov/pubmed/32601476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-020-0652-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados