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

Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uniform the decision process. Several semiautomatic computatio...

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Detalles Bibliográficos
Autores principales: Sládeček, Tomáš, Gažiová, Michaela, Kucharík, Marcel, Zaťková, Andrea, Pös, Zuzana, Pös, Ondrej, Krampl, Werner, Tomková, Erika, Hýblová, Michaela, Minárik, Gabriel, Radvánszky, Ján, Budiš, Jaroslav, Szemes, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10310736/
https://www.ncbi.nlm.nih.gov/pubmed/37386017
http://dx.doi.org/10.1038/s41598-023-37352-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10310736/
https://www.ncbi.nlm.nih.gov/pubmed/37386017
http://dx.doi.org/10.1038/s41598-023-37352-1

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