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

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

Research output: Contribution to journal › Review article › peer-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 language	English
Article number	900431
Journal	Frontiers in Cardiovascular Medicine
Volume	9
DOIs	https://doi.org/10.3389/fcvm.2022.900431
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

Access to Document

10.3389/fcvm.2022.900431

Cite this

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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",

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AU - January, Craig T.

AU - Delisle, Brian P.

AU - Eckhardt, Lee L.

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AB - 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.

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How Functional Genomics Can Keep Pace With VUS Identification

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

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