Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the advent of next-generation sequencing, allowing a deeper insight into a patient’s variant landscape, the ability to characterize variants causing splicing defects has not progressed with the same speed. To address t...

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Detalles Bibliográficos
Autores principales: Rowlands, Charlie F, Baralle, Diana, Ellingford, Jamie M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953098/
https://www.ncbi.nlm.nih.gov/pubmed/31779139
http://dx.doi.org/10.3390/cells8121513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953098/
https://www.ncbi.nlm.nih.gov/pubmed/31779139
http://dx.doi.org/10.3390/cells8121513

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