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
Descripción
Sumario: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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