Detection and validation of six pathogenic variants in Chinese inherited heart disease patients using clinical whole-exome sequencing

Lichao Cao; Fei Ye; Shuqi Xie; Ying Ba; Ying Zeng; Qi Weng; Zhihui Zhang; Hezi Zhang

doi:10.22541/au.162566292.28770313/v1

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Detection and validation of six pathogenic variants in Chinese inherited heart disease patients using clinical whole-exome sequencing

Lichao Cao,
Fei Ye,
Shuqi Xie,
Ying Ba,
Ying Zeng,
Qi Weng,
Zhihui Zhang,
Hezi Zhang

Abstract

The targeted next-generation sequencing (NGS) was employed in detecting the pathogenic mutations in inherited heart disease patients in the present study. Two main methods, the NGS and the classic Sanger sequencing, were used in this study. And, the whole-exome sequencing (WES) was specifically used in this study.