Training Neural Networks with Balanced Mini-batch to Improve the Prediction of Pathogenic Genomic Variants in Mendelian Diseases

Known pathogenic variants associated with genetic Mendelian diseases represent a tiny minority of the overall genetic variation that characterizes the human genome. In this context classical imbalance-aware machine learning methods are unable to distinguish pathogenic from benign variants, since the...

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Bibliographic Details
Main Authors: Luca Cappelletti, Jessica Gliozzo, Alessandro Petrini, Giorgio Valentini
Format: Article
Language:English
Published: IFSA Publishing, S.L. 2019-06-01
Series:Sensors & Transducers
Subjects:
Online Access:https://sensorsportal.com/HTML/DIGEST/june_2019/Vol_234/P_3087.pdf