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Benchmarking deep learning splice prediction tools using functional splice assays

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger RNA splicing. Though genetic variants in the canonical splice motifs are almost always disrupting splicing, the pathogenicity of variants in the noncanonical splice sites (NCSS) and deep intronic (DI) regions ar...

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Detalles Bibliográficos
Autores principales:	Riepe, Tabea V., Khan, Mubeen, Roosing, Susanne, Cremers, Frans P. M., 't Hoen, Peter A. C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Informatics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360004/ https://www.ncbi.nlm.nih.gov/pubmed/33942434 http://dx.doi.org/10.1002/humu.24212

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