학술논문
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Document Type
Article
Author
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
Source
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1065-1074, 10p
Subject
Language
ISSN
10983600; 15300366
Abstract
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.