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Updated: Jun 12, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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变异效应的多重测试和自动补丁紧改善KCNH2-LQTS变异分类和心脏事件风险分层

Matthew J O'Neill1, Chai-Ann Ng2, Takanori Aizawa3

  • 1Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN (M.J.O., X.B.).

Circulation
|September 24, 2024
PubMed
概括

高通量功能测试可以改善导致长QT综合征的KCNH2变异的分类. 穿透率估计和贴片紧数据增加了患者心脏事件风险分层.

关键词:
在LQTS发生心律失常自动贴片紧变异效应的多重测定风险分层

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Patch Clamp01:18

Patch Clamp

Many fundamental cell functions such as muscle contraction and nerve transmission rely on the electrical signals produced by the movement of positively and negatively charged ions across the cell membrane. One competent method to record current flowing across the whole cell or single ion channel is the patch-clamp technique.
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