How Functional Genomics Can Keep Pace With VUS Identification

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...

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Detalles Bibliográficos
Autores principales: Anderson, Corey L., Munawar, Saba, Reilly, Louise, Kamp, Timothy J., January, Craig T., Delisle, Brian P., Eckhardt, Lee L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291992/
https://www.ncbi.nlm.nih.gov/pubmed/35859585
http://dx.doi.org/10.3389/fcvm.2022.900431
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author Anderson, Corey L.
Munawar, Saba
Reilly, Louise
Kamp, Timothy J.
January, Craig T.
Delisle, Brian P.
Eckhardt, Lee L.
author_facet Anderson, Corey L.
Munawar, Saba
Reilly, Louise
Kamp, Timothy J.
January, Craig T.
Delisle, Brian P.
Eckhardt, Lee L.
author_sort Anderson, Corey L.
collection PubMed
description 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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spelling pubmed-92919922022-07-19 How Functional Genomics Can Keep Pace With VUS Identification Anderson, Corey L. Munawar, Saba Reilly, Louise Kamp, Timothy J. January, Craig T. Delisle, Brian P. Eckhardt, Lee L. Front Cardiovasc Med Cardiovascular Medicine 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. Frontiers Media S.A. 2022-07-04 /pmc/articles/PMC9291992/ /pubmed/35859585 http://dx.doi.org/10.3389/fcvm.2022.900431 Text en Copyright © 2022 Anderson, Munawar, Reilly, Kamp, January, Delisle and Eckhardt. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Anderson, Corey L.
Munawar, Saba
Reilly, Louise
Kamp, Timothy J.
January, Craig T.
Delisle, Brian P.
Eckhardt, Lee L.
How Functional Genomics Can Keep Pace With VUS Identification
title How Functional Genomics Can Keep Pace With VUS Identification
title_full How Functional Genomics Can Keep Pace With VUS Identification
title_fullStr How Functional Genomics Can Keep Pace With VUS Identification
title_full_unstemmed How Functional Genomics Can Keep Pace With VUS Identification
title_short How Functional Genomics Can Keep Pace With VUS Identification
title_sort how functional genomics can keep pace with vus identification
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291992/
https://www.ncbi.nlm.nih.gov/pubmed/35859585
http://dx.doi.org/10.3389/fcvm.2022.900431
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