Additional file 2: of Stochastic epigenetic outliers can define field defects in cancer

GSEA result tables of hypervariable DVCs, as identified using iEVORA, in the normal breast study comparing normal breast from healthy women to normal breast adjacent to breast cancer. There are 4 tables, corresponding to hypervariable DVCs mapping to TSS1500, TSS200 or 1st Exon regions, and which are hypermethylated (dvUPdmUP) or hypomethylated (dvUPdmDN) in normal-adjacent tissue, as well as hypervariable DVCs mapping to gene-body or 5â ˛UTR regions, which are hypermethylated (dvUPdmUP-GB) or hypomethylated (dvUPdmDN-GB) in normal-adjacent tissue. In each case, the columns label the number of genes in the MSigDB database list (nList), the number present prior to iEVORA analysis (nRep), the corresponding fraction (fRep), the number of genes overlapping with the iEVORA selected list (nOVLAP), the corresponding odds ratio (OR) and one-tailed Fisher test P-value (P-value), the adjusted P-value using Benjamini-Hochberg correction, and the gene symbols of the genes present in the overlap. (XLS 54 kb)

本数据集为一项正常乳腺研究中，采用iEVORA方法鉴定的高变异性DVCs的基因集富集分析（Gene Set Enrichment Analysis，GSEA）结果表，该研究对比了健康女性正常乳腺组织与乳腺癌毗邻正常乳腺组织。本次数据集共包含4张结果表，分别对应四类高变异性DVCs：① 定位于转录起始位点上游1500bp（TSS1500）、转录起始位点上游200bp（TSS200）或第一外显子区域，且在乳腺癌毗邻正常组织中呈高甲基化（dvUPdmUP）或低甲基化（dvUPdmDN）的DVCs；② 定位于基因本体区域（gene-body）或5'非翻译区（5'UTR），且在乳腺癌毗邻正常组织中呈高甲基化（dvUPdmUP-GB）或低甲基化（dvUPdmDN-GB）的DVCs。每张结果表的列信息依次为：MSigDB（Molecular Signatures Database）数据库列表中的基因总数（nList）、iEVORA分析前纳入的基因数（nRep）、对应基因占比（fRep）、与iEVORA筛选得到的基因集存在重叠的基因数（nOVLAP）、相应的优势比（OR）、单尾费舍尔精确检验P值（P-value）、经本杰明-霍赫贝格（Benjamini-Hochberg）校正后的校正P值，以及重叠基因的基因符号。(XLS 54 kb)