Abstract

DNA methylation is an important epigenetic regulator in gene expression and has several roles in cancer and disease progression. MethHC version 2.0 (MethHC 2.0) is an integrated and web-based resource focusing on the aberrant methylomes of human diseases, specifically cancer. This paper presents an updated implementation of MethHC 2.0 by incorporating additional DNA methylomes and transcriptomes from several public repositories, including 33 human cancers, over 50 118 microarray and RNA sequencing data from TCGA and GEO, and accumulating up to 3586 manually curated data from >7000 collected published literature with experimental evidence. MethHC 2.0 has also been equipped with enhanced data annotation functionality and a user-friendly web interface for data presentation, search, and visualization. Provided features include clinical-pathological data, mutation and copy number variation, multiplicity of information (gene regions, enhancer regions, and CGI regions), and circulating tumor DNA methylation profiles, available for research such as biomarker panel design, cancer comparison, diagnosis, prognosis, therapy study and identifying potential epigenetic biomarkers. MethHC 2.0 is now available at http://awi.cuhk.edu.cn/∼MethHC.

中文翻译：

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MethHC 2.0：人类癌症中 DNA 甲基化和基因表达的信息库

摘要

DNA 甲基化是基因表达中重要的表观遗传调节因子，在癌症和疾病进展中发挥多种作用。MethHC 2.0 版 (MethHC 2.0) 是一个基于网络的综合资源，重点关注人类疾病（特别是癌症）的异常甲基化组。本文介绍了 MethHC 2.0 的更新实现，通过整合来自多个公共存储库的额外 DNA 甲基化组和转录组，包括 33 种人类癌症、来自 TCGA 和 GEO 的超过 50 118 个微阵列和 RNA 测序数据，并从超过 7000 个数据中积累了多达 3586 个手动整理的数据收集带有实验证据的已发表文献。MethHC 2.0 还配备了增强的数据注释功能和用户友好的 Web 界面，用于数据呈现、搜索和可视化。提供的功能包括临床病理数据、突变和拷贝数变异、信息多样性（基因区域、增强子区域和 CGI​​ 区域）以及循环肿瘤 DNA 甲基化图谱，可用于生物标志物组设计、癌症比较、诊断等研究，预后、治疗研究和识别潜在的表观遗传生物标志物。MethHC 2.0现已发布：http://awi.cuhk.edu.cn/∼MethHC。