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

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. We outline the logistics and data flow between an integrated network of c...

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Veröffentlicht in:	Genetics in medicine 2021-06, Vol.23 (6), p.1065-1074
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Canada DNA Methylation Epigenomics Europe Genomes Human Genetics Humans Laboratories Laboratory Medicine Syndrome
Online-Zugang:	Volltext
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