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Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants
Disease and trait-associated variants represent a tiny minority of all known genetic variation, and therefore there is necessarily an imbalance between the small set of available disease-associated and the much larger set of non-deleterious genomic variation, especially in non-coding regulatory regi...
Autores principales: | Schubach, Max, Re, Matteo, Robinson, Peter N., Valentini, Giorgio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462751/ https://www.ncbi.nlm.nih.gov/pubmed/28592878 http://dx.doi.org/10.1038/s41598-017-03011-5 |
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