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SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

SUMMARY: SpliceAI is a widely used splicing prediction tool and its most common application relies on the maximum delta score to assign variant impact on splicing. We developed the SpliceAI-10k calculator (SAI-10k-calc) to extend use of this tool to predict: the splicing aberration type including ps...

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Detalles Bibliográficos
Autores principales: Canson, Daffodil M, Davidson, Aimee L, de la Hoya, Miguel, Parsons, Michael T, Glubb, Dylan M, Kondrashova, Olga, Spurdle, Amanda B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10125908/
https://www.ncbi.nlm.nih.gov/pubmed/37021934
http://dx.doi.org/10.1093/bioinformatics/btad179