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

How Functional Genomics Can Keep Pace With VUS Identification

Front Cardiovasc Med. 2022 Jul 4:9:900431. doi: 10.3389/fcvm.2022.900431. eCollection 2022.

Authors

Corey L Anderson¹, Saba Munawar¹, Louise Reilly¹, Timothy J Kamp¹, Craig T January¹, Brian P Delisle², Lee L Eckhardt¹

Affiliations

¹ Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States.
² Department of Physiology, University of Kentucky College of Medicine, Lexington, KY, United States.

Abstract

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.

Keywords: VUS classification; cardiac genetics; functional genomics; high through put screening; inherited arrhythmia.

Publication types

Review

Abstract

Publication types

Grants and funding