This review emphasizes the importance of integrating in vitro and in silico methods to reclassify genetic variants of unknown significance in channelopathies associated with sudden cardiac death.
: In order to interpret the correlation between variants and pathologies, we discuss experimental studies, such as RNA sequencing and functional analysis of proteins. Unfortunately, as these in vitro analyses cannot always be performed, we draw attention to in silico studies as future perspectives in genetics. This review has the aim of discussing the potential methods of detection and interpretation of VUSs, bringing out the need for a future reclassification of variants with currently unknown significance.
Pesaresi et al. (Fri,) studied this question.
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