Article
Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
Genome biology - 21 Dec 2023
Smith Cathy, Kitzman Jacob O
Abstract excerpt
BACKGROUND: 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 dinucleotides remains difficult. Computational predictors are often discordant, compounding the challenge of variant interpretation. Because they are primarily validated using clinical variant sets...
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