Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. / Monk, David; Morales, Joannella; den Dunnen, Johan T; Russo, Silvia; Court, Franck; Prawitt, Dirk; Eggermann, Thomas; Beygo, Jasmin; Buiting, Karin; Tümer, Zeynep.
I: Epigenetics, 01.2018.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
AU - Monk, David
AU - Morales, Joannella
AU - den Dunnen, Johan T
AU - Russo, Silvia
AU - Court, Franck
AU - Prawitt, Dirk
AU - Eggermann, Thomas
AU - Beygo, Jasmin
AU - Buiting, Karin
AU - Tümer, Zeynep
PY - 2018/1
Y1 - 2018/1
N2 - 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.
AB - 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.
KW - Journal Article
U2 - 10.1080/15592294.2016.1264561
DO - 10.1080/15592294.2016.1264561
M3 - Journal article
C2 - 27911167
JO - Epigenetics
JF - Epigenetics
SN - 1559-2294
ER -
ID: 176338819