Article

A calibrated functional patch clamp assay to enhance clinical variant interpretation in <i>KCNH2</i> -related long QT syndrome

2021-12-15

Abstract excerpt

<h4>Purpose</h4> Modern sequencing technologies have revolutionised our detection of gene variants. In most genes, including KCNH2 , the majority of missense variants are currently classified as variants of uncertain significance (VUS). The aim of this study is to investigate the utility of an automated patch-clamp assay for aiding clinical variant classification in the KCNH2 gene. <h4>Methods</h4> The assay...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e334e957-bd46-58f0-86bd-e47da40a13f7
DOI: 10.1101/2021.12.13.472492

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A calibrated functional patch clamp assay to enhance clinical variant interpretation in <i>KCNH2</i> -related long QT syndromeDOI 10.1101/2021.12.13.472492Read

Clinical interpretation of<i>KCNH2</i>variants using a robust PS3/BS3 functional patch clamp assaySemantic proximity Read

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndromeSemantic proximity Read

Heterozygous <i>KCNH2</i> variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiologySemantic proximity Read

Calibrated Functional Data Decreases Clinical Uncertainty for<i>KCNH2</i>-related Long QT SyndromeSemantic proximity Read

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve<i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk StratificationSemantic proximity Read

Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiologySemantic proximity Read

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetranceSemantic proximity Read

Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromesSemantic proximity Read

Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for<i>SCN5A</i>-Brugada SyndromeSemantic proximity Read

High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown SignificanceSemantic proximity Read

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetranceSemantic proximity Read

High-Throughput Functional Evaluation of <i>KCNQ1</i> Decrypts Variants of Unknown SignificanceSemantic proximity Read