Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

PURPOSE: We describe the clinical implementation of genome-wide DNA methylation analysis in rare disorders across the EpiSign diagnostic laboratory network and the assessment of results and clinical impact in the first subjects tested. METHODS: We outline the logistics and data flow between an integ...

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Publicado no:Genet Med
Main Authors: Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8187150/
https://ncbi.nlm.nih.gov/pubmed/33547396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01096-4
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