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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| 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 |