Article
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 3 Feb 2026
Chatelain Frank C, de Oliveira Barbara Ribeiro, Grataloup Guillaume, Robert Noé, Alameh Malak, Thollet Aurélie, Montnach Jérôme, Feliciangeli Sylvain, Rio Aline, Bibault Floriane, Bichet Delphine, Bignucolo Olivier, Extramiana Fabrice, Majumder Rupamanjari, Schott Jean-Jacques, Probst Vincent, Denjoy Isabelle, Lesage Florian, Loussouarn Gildas, De Waard Michel
Abstract excerpt
Inherited mutations in the KCNH2 gene, which encodes the cardiac hERG potassium channel, are major contributors to arrhythmogenic syndromes such as long QT and short QT syndromes. However, clinical interpretation of the growing number of missense variants - many of which are classified as variants of uncertain significance (VUS) - remains a pressing challenge. Here, we present a semi-automated in silico pipeline...
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