Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

Epimutations are rare alterations of the normal DNA methylation pattern at specific loci, which can lead to rare diseases. Methylation microarrays enable genome-wide epimutation detection, but technical limitations prevent their use in clinical settings: methods applied to rare diseases’ data cannot...

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Detalles Bibliográficos
Autores principales: Ruiz-Arenas, Carlos, Abarrategui, Leire, Hernandez-Ferrer, Carles, Escribà-Montagut, Xavier, Pelegrí-Sisó, Dolors, Ryser-Welch, Patricia, Vrijheid, Martine, Bustamante, Mariona, Grazuleviciene, Regina, Lepeule, Johanna, Mathai, Mathew, Vafeiadi, Marina, Beltran, Sergi, Pérez-Jurado, Luis A, González, Juan R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10327521/
https://www.ncbi.nlm.nih.gov/pubmed/37409354
http://dx.doi.org/10.1080/15592294.2023.2230670

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