Article
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Circulation - 22 Mar 2022
Glazer Andrew M, Davogustto Giovanni, Shaffer Christian M, Vanoye Carlos G, Desai Reshma R, Farber-Eger Eric H, Dikilitas Ozan, Shang Ning, Pacheco Jennifer A, Yang Tao, Muhammad Ayesha, Mosley Jonathan D, Van Driest Sara L, Wells Quinn S, Shaffer Lauren Lee, Kalash Olivia R, Wada Yuko, Bland Harris T, Yoneda Zachary T, Mitchell Devyn W, Kroncke Brett M, Kullo Iftikhar J, Jarvik Gail P, Gordon Adam S, Larson Eric B, Manolio Teri A, Mirshahi Tooraj, Luo Jonathan Z, Schaid Daniel, Namjou Bahram, Alsaied Tarek, Singh Rajbir, Singhal Ashutosh, Liu Cong, Weng Chunhua, Hripcsak George, Ralston James D, McNally Elizabeth M, Chung Wendy K, Carrell David S, Leppig Kathleen A, Hakonarson Hakon, Sleiman Patrick, Sohn Sunghwan, Glessner Joseph, Denny Joshua, Wei Wei-Qi, George Alfred L, Shoemaker M Benjamin, Roden Dan M
Abstract excerpt
BACKGROUND: Sequencing Mendelian arrhythmia genes in individuals without an indication for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) variants. However, the extent to which these variants are associated with clinically meaningful phenotypes before or after return of variant results is unclear. In addition, the majority of discovered variants are currently classified...
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