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