Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
| Autor: | Monk, D., Morales, J., Dunnen, J.T. den, Russo, S., Court, F., Prawitt, D., Eggermann, T., Beygo, J., Buiting, K., Tumer, Z., European Network Human Congenital |
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| Rok vydání: | 2018 |
| Předmět: |
Epigenomics
0301 basic medicine Cancer Research ADN Medizin Biology Bioinformatics Methylation Genomic Imprinting 03 medical and health sciences 0302 clinical medicine Terminology as Topic Health care Journal Article imprinting disorders Animals Humans Point of View Molecular Biology Nomenclature Polymorphism Genetic Aberrant methylation business.industry Imprinting DNA DNA Methylation 3. Good health 030104 developmental biology Differentially methylated regions 030220 oncology & carcinogenesis Practice Guidelines as Topic DNA methylation nomenclature Human genome methylation Special care Metilació business |
| Zdroj: | Epigenetics, 13(2), 117-121 Dipòsit Digital de la UB Universidad de Barcelona Monk, D, Morales, J, den Dunnen, J T, Russo, S, Court, F, Prawitt, D, Eggermann, T, Beygo, J, Buiting, K & Tümer, Z 2018, ' Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains ', Epigenetics . https://doi.org/10.1080/15592294.2016.1264561 |
| ISSN: | 1559-2308 1559-2294 |
| DOI: | 10.1080/15592294.2016.1264561 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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