Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/172751
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, comparisons between these studies are routinely hampered by the lack of consistency in reporting sites of methylation evaluated. To avoid confusion surrounding nomenclature, special care is needed to communicate results accurately, especially between scientists and other health care professionals. Within the European Network for Human Congenital Imprinting Disorders we have discussed these issues and designed a nomenclature for naming imprinted DMRs as well as for reporting methylation values. We apply these recommendations for imprinted DMRs that are commonly assayed in clinical laboratories and show how they support standardized database submission. The recommendations are in line with existing recommendations, most importantly the Human Genome Variation Society nomenclature, and should facilitate accurate reporting and data exchange among laboratories and thereby help to avoid future confusion.
Matèries (anglès)
Citació
Citació
MONK, David, MORALES, Joannella, DEN DUNNEN, Johan t., RUSSO, Silvia, COURT, Franck, PRAWITT, Dirk, EGGERMANN, Thomas, BEYGO, Jasmin, BUITING, Karin, TUMER, Zeynep, Nomenclature group of the European Network for Human Congenital Imprinting Disorders. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. _Epigenetics_. 2018. Vol. 13, núm. 2, pàgs. 117-121. [consulta: 23 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/172751]