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Identification of differentially methylated regions in rare diseases from a single-patient perspective

BACKGROUND: DNA methylation (5-mC) is being widely recognized as an alternative in the detection of sequence variants in the diagnosis of some rare neurodevelopmental and imprinting disorders. Identification of alterations in DNA methylation plays an important role in the diagnosis and understanding...

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Detalles Bibliográficos
Autores principales:	Grolaux, Robin, Hardy, Alexis, Olsen, Catharina, Van Dooren, Sonia, Smits, Guillaume, Defrance, Matthieu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758859/ https://www.ncbi.nlm.nih.gov/pubmed/36527161 http://dx.doi.org/10.1186/s13148-022-01403-7

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