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Benchmarking splice variant prediction algorithms using massively parallel splicing assays
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, compou...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187268/ https://www.ncbi.nlm.nih.gov/pubmed/37205456 http://dx.doi.org/10.1101/2023.05.04.539398 |