Genetic variant annotation scores in congenital long QT syndrome.

Arwa Younis,Christopher Bodurian,Dan E Arking,Nicola Luigi Bragazzi,Chadi Tabaja,Wojciech Zareba,Scott McNitt,Mehmet K Aktas,Bronislava Polonsky,Coeli M Lopes,Nona Sotoodehnia,Peter J Kudenchuk,Ilan Goldenberg

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc（2023）

引用 1|浏览18

暂无评分

摘要

In congenital LQTS patients, well-established algorithms (CADD, SIFT, REVEL, and PolyPhen-2) were able to identify the majority of the causal variants as pathogenic. However, the scores did not predict clinical outcomes. These results indicate that mutation location/functional assays are essential for accurate interpretation of the risk associated with LQTS mutations.

查看译文

关键词

Electrophsiology -long QT syndrome, Electrophysiology -cardiac arrest/sudden death, Molecular biology/genetics

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要