How Functional Genomics Can Keep Pace With VUS Identification

Autor: Corey L. Anderson, Saba Munawar, Louise Reilly, Timothy J. Kamp, Craig T. January, Brian P. Delisle, Lee L. Eckhardt
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Druh dokumentu: article
ISSN: 2297-055X
DOI: 10.3389/fcvm.2022.900431
Popis: 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.
Databáze: Directory of Open Access Journals