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Article

Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.

Scientific reports - 27 Jan 2014

Juang Jyh-Ming Jimmy, Lu Tzu-Pin, Lai Liang-Chuan, Hsueh Chia-Hsiang, Liu Yen-Bin, Tsai Chia-Ti, Lin Lian-Yu, Yu Chih-Chieh, Hwang Juey-Jen, Chiang Fu-Tien, Yeh Sherri Shih-Fan, Chen Wen-Pin, Chuang Eric Y, Lai Ling-Ping, Lin Jiunn-Lee

Abstract excerpt

Brugada syndrome (BrS) is an inheritable sudden cardiac death disease mainly caused by SCN5A mutations. Traditional approaches can be costly and time-consuming if all candidate variants need to be validated through in vitro studies. Therefore, we developed a new approach by combining multiple in silico analyses to predict functional and structural changes of candidate SCN5A variants in BrS before conducting in...

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PMID: 24463578
DOI: 10.1038/srep03850
PMCID: PMC3902491

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