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

Producción científica: Review article › revisión exhaustiva

19 Citas (Scopus)

Resumen

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.

Idioma original	English
Número de artículo	900431
Publicación	Frontiers in Cardiovascular Medicine
Volumen	9
DOI	https://doi.org/10.3389/fcvm.2022.900431
Estado	Published - jul 4 2022

Nota bibliográfica

Publisher Copyright:
Copyright © 2022 Anderson, Munawar, Reilly, Kamp, January, Delisle and Eckhardt.

Financiación

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.

Financiadores	Número del financiador
National Heart, Lung, and Blood Institute (NHLBI)	R01 HL141342-01, R01 HL139738-01
Israel National Road Safety Authority

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.3389/fcvm.2022.900431

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title = "How Functional Genomics Can Keep Pace With VUS Identification",

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.",

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AU - Anderson, Corey L.

AU - Munawar, Saba

AU - Reilly, Louise

AU - Kamp, Timothy J.

AU - January, Craig T.

AU - Delisle, Brian P.

AU - Eckhardt, Lee L.

PY - 2022/7/4

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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.

KW - VUS classification

KW - cardiac genetics

KW - functional genomics

KW - high through put screening

KW - inherited arrhythmia

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How Functional Genomics Can Keep Pace With VUS Identification

Resumen

Nota bibliográfica

Financiación

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