Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations

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Authors: Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvánszky, Jaroslav Budiš, Tomáš Szemes

Journal title: Scientific Reports

Journal number: 13

Journal publisher: Nature Publishing Group

Published year: 2023

DOI identifier: 10.1038/s41598-023-37352-1

ISSN: 2045-2322