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.
Original language | English |
---|---|
Article number | 900431 |
Journal | Frontiers in Cardiovascular Medicine |
Volume | 9 |
DOIs | |
State | Published - Jul 4 2022 |
Bibliographical note
Funding Information:This project was supported in part by the Gary and Marie Weiner Prof. in Cardiovascular Medicine Research (LE), NHLBI R01 HL139738-01 (LE), NHLBI R01 HL141342-01 (BD PI; LE, and CJ co-I) and Ruth L. Kirschstein F32 HL128091 NRSA postdoctoral fellowship CA.
Publisher Copyright:
Copyright © 2022 Anderson, Munawar, Reilly, Kamp, January, Delisle and Eckhardt.
Keywords
- VUS classification
- cardiac genetics
- functional genomics
- high through put screening
- inherited arrhythmia
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine