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Discovering cryptic splice mutations in cancers via a deep neural network framework

Somatic mutations can disrupt splicing regulatory elements and have dramatic effects on cancer genes, yet the functional consequences of mutations located in extended splice regions is difficult to predict. Here, we use a deep neural network (SpliceAI) to characterize the landscape of splice-alterin...

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Detalles Bibliográficos
Autores principales: Teboul, Raphaël, Grabias, Michalina, Zucman-Rossi, Jessica, Letouzé, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10015341/
https://www.ncbi.nlm.nih.gov/pubmed/36937541
http://dx.doi.org/10.1093/narcan/zcad014

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