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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2019
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| 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 |