Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to use for each splicing context remains difficult. Here, we de...

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Detalles Bibliográficos
Autores principales: Sullivan, Patricia J., Gayevskiy, Velimir, Davis, Ryan L., Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J., Beecroft, Sarah, Jackson, Matilda R., Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E., Scott, Hamish S., Oates, Emily, Pinese, Mark, Cowley, Mark J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10190034/
https://www.ncbi.nlm.nih.gov/pubmed/37198692
http://dx.doi.org/10.1186/s13059-023-02936-7

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