SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

Australian researchers reporting in Nature Genetics outline a web portal known as SpliceVault, designed for interpreting and classifying messenger RNA splice site variant. With splicing clues found in RNA sequencing data for more than 335,600 samples assessed for the 300K-RNA resource, the team characterized the so-called "Top-4" unannotated splicing events, turning to the 300K-RNA Top-4 to predict and find variant-related splicing changes, exon-skipping events, and cryptic splice sites. "The 300K-RNA Top-4 events correctly identify 96 percent of exon-skipping events (including multi-exon skipping) and 86 percent of activated cryptic splice sites induced by 88 variants in 74 genes for 140 affected individuals or heterozygotes subject to RNA diagnostics," the authors report, noting that the approach surpassed an existing method called SpliceAI when it came to exon- and double-exon skipping predictions or cryptic splice site activation. "We provide SpliceVault," they add, "a web portal to access 300K-RNA … which quantifies natural variation in splicing and potentially predicts the nature of variant-associated mis-splicing."