Variants of uncertain significance: At the crux of diagnostic odyssey

Abstract excerpt

The variants of uncertain significance (VUS) have caught an immense interest ever since the next-generation sequencing (NGS) capture technologies spanned beyond the vast majority of inferring disease-causing mutations. On the other hand, as genetic variation is best seen in non-coding regions, interpreting the mutations at exon-intron boundaries with large numbers of VUS has gained significance. This allows VUS...