Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Variants that disrupt mRNA splicing account for a sizable fraction of the pathogenic burden in many genetic disorders, but identifying splice-disruptive variants (SDVs) beyond the essential splice site dinucle...

Source: Genome Biology - December 21, 2023 Category: Genetics & Stem Cells Authors: Cathy Smith and Jacob O. Kitzman Tags: Research Source Type: research