Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Deciphering the premature mortality in PIGA-CDG - An untold story

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • David Monk
  • Joannella Morales
  • Johan T den Dunnen
  • Silvia Russo
  • Franck Court
  • Dirk Prawitt
  • Thomas Eggermann
  • Jasmin Beygo
  • Karin Buiting
  • Zeynep Tümer
Vis graf over relationer

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.

TidsskriftClinical Epigenetics
Sider (fra-til)117-121
StatusUdgivet - 25 jan. 2018

ID: 49586045