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

Internet

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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