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

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 for...

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Bibliographic Details
Main Authors: Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Human Genomics
Online Access:https://doi.org/10.1186/s40246-023-00451-1

Internet

https://doi.org/10.1186/s40246-023-00451-1

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