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Automated prediction of the clinical impact of structural copy number variations

Copy number variants (CNVs) play an important role in many biological processes, including the development of genetic diseases, making them attractive targets for genetic analyses. The interpretation of the effect of these structural variants is a challenging problem due to highly variable numbers o...

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Detalles Bibliográficos
Autores principales: Gažiová, M., Sládeček, T., Pös, O., Števko, M., Krampl, W., Pös, Z., Hekel, R., Hlavačka, M., Kucharík, M., Radvánszky, J., Budiš, J., Szemes, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752772/
https://www.ncbi.nlm.nih.gov/pubmed/35017614
http://dx.doi.org/10.1038/s41598-021-04505-z