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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...

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Detalles Bibliográficos
Autores principales: Schubach, Max, Re, Matteo, Robinson, Peter N., Valentini, Giorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
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