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Detection and validation of six pathogenic variants in Chinese inherited heart disease patients using clinical whole-exome sequencing
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  • Lichao Cao,
  • Fei Ye,
  • Shuqi Xie,
  • Ying Ba,
  • Ying Zeng,
  • Qi Weng,
  • Zhihui Zhang,
  • Hezi Zhang
Lichao Cao
Northwest University
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Fei Ye
Central South University Third Xiangya Hospital
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Shuqi Xie
Shenzhen Nuclear Gene Technology Co Ltd Shenzhen 518071 China
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Ying Ba
Shenzhen Nuclear Gene Technology Co Ltd Shenzhen 518071 China
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Ying Zeng
Shenzhen Nuclear Gene Technology Co Ltd Shenzhen 518071 China
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Qi Weng
Shenzhen Nuclear Gene Technology Co Ltd Shenzhen 518071 China
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Zhihui Zhang
Central South University Third Xiangya Hospital
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Hezi Zhang
Shenzhen Nuclear Gene Technology Co Ltd Shenzhen 518071 China
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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.

Peer review status:UNDER REVIEW

13 Jun 2021Submitted to Clinical Case Reports
16 Jun 2021Assigned to Editor
16 Jun 2021Submission Checks Completed
07 Jul 2021Reviewer(s) Assigned
16 Aug 2021Review(s) Completed, Editorial Evaluation Pending