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CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites
BACKGROUND: It is estimated that up to 50% of all disease causing variants disrupt splicing. Due to its complexity, our ability to predict which variants disrupt splicing is limited, meaning missed diagnoses for patients. The emergence of machine learning for targeted medicine holds great potential...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165884/ https://www.ncbi.nlm.nih.gov/pubmed/35657932 http://dx.doi.org/10.1371/journal.pone.0269159 |