De novo variants in gene regulatory regions contribute to CHD

被引:0
作者
Fernandez-Ruiz, Irene
机构
[1] Nature Reviews Cardiology,
关键词
D O I
10.1038/s41569-020-0420-x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Non-coding de novo variants (DNVs) contribute to congenital heart disease (CHD) through transcriptional and post-transcriptional regulatory effects during cardiac development. The proportion of individuals with CHD ascribed to non-coding DNVs might be at least as high as that with CHD attributed to coding DNVs
引用
收藏
页码:541 / 541
页数:1
相关论文
共 1 条
  • [1] Genomic analyses implicate noncoding de novo variants in congenital heart disease
    Richter, Felix
    Morton, Sarah U.
    Kim, Seong Won
    Kitaygorodsky, Alexander
    Wasson, Lauren K.
    Chen, Kathleen M.
    Zhou, Jian
    Qi, Hongjian J.
    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., Jr.
    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.
    [J]. NATURE GENETICS, 2020, 52 (08) : 769 - +