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

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

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 languageEnglish
Article number900431
JournalFrontiers in Cardiovascular Medicine
Volume9
DOIs
StatePublished - 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

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