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Systematic Evaluation of KCNQ1 variant using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1: Expression of Concern
Circulation: Genomic and Precision Medicine ( IF 6.0 ) Pub Date : 2020-12-15 , DOI: 10.1161/hcg.0000000000000077


The article “Systematic Evaluation of KCNQ1 variant using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1” by Kashiwa et al, which published on September 16, 2020 in the journal (Circulation: Genomic and Precision Medicine. https://doi.org/10.1161/CIRCGEN.120.002926) enrolled a total of 927 long-QT syndrome type 1 (LQT1) patients from two LQT registries. However, substantial duplicated cases could be found between the two databases.


We are communicating with the authors regarding the impact to study results, including tables and figures, following removal of the duplicated cases. We are publishing this Expression of Concern while we await the outcome of these communications and to indicate that the data in the listed publication may not be reliable.



中文翻译:

使用ACMG / AMP指南对KCNQ1变体进行系统评估,并在长QT综合征类型1中进行风险分层:关注的表达

Kashiwa等人的文章“使用ACMG / AMP指南对KCNQ1变体进行系统评价和1型长QT综合征的风险分层”,于2020年9月16日发表在《循环:基因组与精密医学》杂志上。https:// doi.org/10.1161/CIRCGEN.120.002926)招募了来自两个LQT注册中心的927名长QT综合征1型(LQT1)患者。但是,在两个数据库之间可以找到大量重复的案例。


在删除重复的案例之后,我们正在与作者就研究结果的影响进行沟通,包括表格和数字。在等待这些沟通的结果时,我们正在发布此关注的表述,并表示所列出版物中的数据可能不可靠。

更新日期:2020-12-16
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