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Classification of non-coding variants with high pathogenic impact

Whole genome sequencing is increasingly used to diagnose medical conditions of genetic origin. While both coding and non-coding DNA variants contribute to a wide range of diseases, most patients who receive a WGS-based diagnosis today harbour a protein-coding mutation. Functional interpretation and...

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Detalles Bibliográficos
Autores principales:	Moyon, Lambert, Berthelot, Camille, Louis, Alexandra, Nguyen, Nga Thi Thuy, Roest Crollius, Hugues
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9094564/ https://www.ncbi.nlm.nih.gov/pubmed/35486646 http://dx.doi.org/10.1371/journal.pgen.1010191

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