Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Hum Mutat. 2020 Oct;41(10):1722-1733. doi: 10.1002/humu.24076. Epub 2020 Jul 15.
Epigenetic processes play a key role in regulating gene expression. Genetic variants that disrupt chromatin-modifying proteins are associated with a broad range of diseases, some of which have specific epigenetic patterns, such as aberrant DNA methylation (DNAm), which may be used as disease biomarkers. While much of the epigenetic research has focused on cancer, there is a paucity of resources devoted to neurodevelopmental disorders (NDDs), which include autism spectrum disorder and many rare, clinically overlapping syndromes. To address this challenge, we created EpigenCentral, a free web resource for biomedical researchers, molecular diagnostic laboratories, and clinical practitioners to perform the interactive classification and analysis of DNAm data related to NDDs. It allows users to search for known disease-associated patterns in their DNAm data, classify genetic variants as pathogenic or benign to assist in molecular diagnostics, or analyze patterns of differential methylation in their data through a simple web form. EpigenCentral is freely available at http://epigen.ccm.sickkids.ca/.
表观遗传过程在调节基因表达中起着关键作用。破坏染色质修饰蛋白的遗传变异与广泛的疾病有关，其中一些具有特定的表观遗传模式，例如异常的 DNA 甲基化 (DNAm)，它可以用作疾病生物标志物。虽然大部分表观遗传学研究都集中在癌症上，但针对神经发育障碍 (NDD) 的资源却很少，其中包括自闭症谱系障碍和许多罕见的、临床重叠的综合征。为了应对这一挑战，我们创建了 EpigenCentral，这是一个面向生物医学研究人员、分子诊断实验室和临床医生的免费网络资源，用于对与 NDD 相关的 DNAm 数据进行交互式分类和分析。它允许用户在他们的 DNAm 数据中搜索已知的与疾病相关的模式，将遗传变异分类为致病性或良性以协助分子诊断，或者通过简单的网络表单分析他们数据中的差异甲基化模式。EpigenCentral 可在 http://epigen.ccm.sickkids.ca/ 免费获取。
