Continuous variant reclassification: An effective tool in the ongoing quest to escape genetic purgatory-Reference-Cited by-同舟云学术

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Continuous variant reclassification: An effective tool in the ongoing quest to escape genetic purgatory

Published:2024-06 Issue:6 Volume:21 Page:911-912
ISSN:1547-5271
Container-title:Heart Rhythm
language:en
Short-container-title:Heart Rhythm

Author:

Ackerman Michael J.,Giudicessi John R.^ORCID

Publisher

Elsevier BV

Reference8 articles.

1. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases;Wilde;Heart Rhythm,2022

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

3. Genetic purgatory and the cardiac channelopathies: exposing the variants of uncertain/unknown significance issue;Ackerman;Heart Rhythm,2015

4. Clinical impact of rare variants associated with inherited channelopathies: a 5-year update;Sarquella-Brugada;Hum Genet,2022

5. Assessment and validation of a phenotype-enhanced variant classification framework to promote or demote RYR2 missense variants of uncertain significance;Giudicessi;Circ Genom Precis Med,2019

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