How Functional Genomics Can Keep Pace With VUS Identification

Corey L. Anderson; Saba Munawar; Louise Reilly; Timothy J. Kamp; Craig T. January; Brian P. Delisle; Lee L. Eckhardt

doi:10.3389/fcvm.2022.900431

Frontiers in Cardiovascular Medicine (Jul 2022)

How Functional Genomics Can Keep Pace With VUS Identification

Corey L. Anderson,
Saba Munawar,
Louise Reilly,
Timothy J. Kamp,
Craig T. January,
Brian P. Delisle,
Lee L. Eckhardt

Affiliations

Corey L. Anderson: Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States
Saba Munawar: Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States
Louise Reilly: Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States
Timothy J. Kamp: Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States
Craig T. January: Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States
Brian P. Delisle: Department of Physiology, University of Kentucky College of Medicine, Lexington, KY, United States
Lee L. Eckhardt: Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States

DOI: https://doi.org/10.3389/fcvm.2022.900431
Journal volume & issue: Vol. 9

Abstract

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Over the last two decades, an exponentially expanding number of genetic variants have been identified associated with inherited cardiac conditions. These tremendous gains also present challenges in deciphering the clinical relevance of unclassified variants or variants of uncertain significance (VUS). This review provides an overview of the advancements (and challenges) in functional and computational approaches to characterize variants and help keep pace with VUS identification related to inherited heart diseases.

Published in Frontiers in Cardiovascular Medicine

ISSN: 2297-055X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.frontiersin.org/journals/cardiovascular-medicine

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Abstract

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