Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
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DOI：
10.1080/15592294.2016.1264561
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发表时间：
2018-01-01
期刊：
影响因子：
3.7
通讯作者：
Tumer, Zeynep
中科院分区：
文献类型：
--
作者：
Monk, David;Morales, Joannella;Tumer, Zeynep
DNA甲基化分析已经成为诊断印迹疾病的常规方法，许多出版物报道了与印迹差异甲基化区（DMRs）相关的异常甲基化。然而，这些研究之间的比较通常受到甲基化评估报告位点缺乏一致性的阻碍。为了避免围绕命名法的混淆，需要特别注意准确地交流结果，特别是在科学家和其他卫生保健专业人员之间。在欧洲人类先天性印记疾病网络中，我们讨论了这些问题，并设计了命名印迹dmr以及报告甲基化值的命名法。我们将这些建议应用于临床实验室中通常检测的印迹dmr，并展示它们如何支持标准化数据库提交。这些建议与现有的建议一致，最重要的是人类基因组变异学会的命名法，并应促进实验室之间准确的报告和数据交换，从而有助于避免未来的混乱。
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.