Additional file 7: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S7. In silico analysis of single CNVs falling in gene-desert regions. Prediction of the influence of CNVs on topologically associating domains (TADs), discrete genomic regions characterized by a high frequency of self-interaction. The presence of noncoding, potentially regulatory elements and the possible positional effect of alterations are also considered. [lincRNA: long intergenic noncoding RNA; H3K27Ac, H3K4Me1: Histone 3 acetilation/methylation, may indicate active regulatory elements; a across TAD boundary; b within TAD]. (XLS 27Â kb)

表S7. 基因沙漠区域中单拷贝数变异（CNVs, Copy Number Variations）的计算机模拟分析。预测拷贝数变异对拓扑关联结构域（TADs, topologically associating domains）的影响——该结构域为以高频自我交互为特征的离散基因组区域。本分析同时考量了非编码潜在调控元件的存在，以及变异可能带来的位置效应。[lincRNA：长基因间非编码RNA（long intergenic noncoding RNA）；H3K27Ac、H3K4Me1：组蛋白3乙酰化/甲基化修饰，可提示活跃调控元件；a：跨越TAD边界；b：位于TAD内部]。(XLS 27 KB)