Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.

Abstract excerpt

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 regions of human genome. Machine Learning (ML) methods for predicting disease-associated non-coding variants are faced...

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