Article

Rapid functional classification of cardiac genetic variants directly informs precision cardiology

2026-04-19

Abstract excerpt

Large-scale clinical genome sequencing yields vast numbers of variants of unknown significance (VUSs). The high frequency of VUSs and the paucity of platforms to characterize their functional impact pose significant challenges for clinical decision making. Here, we present an integrated end-to-end platform, REVi-SCOPE (Rapid evaluation of variants in single cells by optogenetics and prime editing), for characteriz...

Topics

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

Identifiers and source

Literature Corpus work: 124c775d-fc4d-5831-8b1d-70803be6ad63
DOI: 10.64898/2026.04.15.718512

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rapid functional classification of cardiac genetic variants directly informs precision cardiologyDOI 10.64898/2026.04.15.718512Read

Towards Precision Medicine With Human iPSCs for Cardiac ChannelopathiesSemantic proximity Read

High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.Semantic proximity Read

Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation.Semantic proximity Read

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseSemantic proximity Read

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.Semantic proximity Read

Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in PatientsSemantic proximity Read

Multiplexed functional assessments of <i>MYH7</i> variants in human cardiomyocytes at scaleSemantic proximity Read

Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contextsSemantic proximity Read

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.Semantic proximity Read

A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.Semantic proximity Read

Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutionsSemantic proximity Read

ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering VariantsSemantic proximity Read