SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

ABSTRACT: SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) although the numerical values are very convenient fo...

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Detalles Bibliográficos
Autores principales: de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Perspective
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9912651/
https://www.ncbi.nlm.nih.gov/pubmed/36765386
http://dx.doi.org/10.1186/s40246-023-00451-1

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