Article
Genetic variant annotation scores in congenital long QT syndrome.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc - 1 Sept 2023
Younis Arwa, Bodurian Christopher, Arking Dan E, Bragazzi Nicola Luigi, Tabaja Chadi, Zareba Wojciech, McNitt Scott, Aktas Mehmet K, Polonsky Bronislava, Lopes Coeli M, Sotoodehnia Nona, Kudenchuk Peter J, Goldenberg Ilan
Abstract excerpt
BACKGROUND: Congenital Long QT Syndrome (LQTS) is a hereditary arrhythmic disorder. We aimed to assess the performance of current genetic variant annotation scores among LQTS patients and their predictive impact. METHODS: We evaluated 2025 patients with unique mutations for LQT1-LQT3. A patient-specific score was calculated for each of four established genetic variant annotation algorithms: CADD, SIFT, REVEL, and...
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