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3D-GNOME 2.0: a three-dimensional genome modeling engine for predicting structural variation-driven alterations of chromatin spatial structure in the human genome

机译:3D-GNOME 2.0:三维基因组建模引擎用于预测结构变异驱动的人类基因组中染色质空间结构的变化

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摘要

Structural variants (SVs) that alter DNA sequence emerge as a driving force involved in the reorganisation of DNA spatial folding, thus affecting gene transcription. In this work, we describe an improved version of our integrated web service for structural modeling of three-dimensional genome (3D-GNOME), which now incorporates all types of SVs to model changes to the reference 3D conformation of chromatin. In 3D-GNOME 2.0, the default reference 3D genome structure is generated using ChIA-PET data from the GM12878 cell line and SVs data are sourced from the population-scale catalogue of SVs identified by the 1000 Genomes Consortium. However, users may also submit their own structural data to set a customized reference genome structure, and/or a custom input list of SVs. 3D-GNOME 2.0 provides novel tools to inspect, visualize and compare 3D models for regions that differ in terms of their linear genomic sequence. Contact diagrams are displayed to compare the reference 3D structure with the one altered by SVs. In our opinion, 3D-GNOME 2.0 is a unique online tool for modeling and analyzing conformational changes to the human genome induced by SVs across populations. It can be freely accessed at .
机译:改变DNA序列的结构变体(SV)作为驱动力出现在DNA空间折叠的重组中,从而影响基因转录。在这项工作中,我们描述了用于三维基因组结构建模(3D-GNOME)的集成Web服务的改进版本,该服务现在结合了所有类型的SV来对染色质的参考3D构象进行建模。在3D-GNOME 2.0中,默认的参考3D基因组结构是使用GM12878细胞系的ChIA-PET数据生成的,而SVs数据则是从1000个基因组联盟确定的SV的人口规模目录中获得的。但是,用户也可以提交自己的结构数据以设置定制的参考基因组结构和/或定制的SV输入列表。 3D-GNOME 2.0提供了新颖的工具来检查,可视化和比较3D模型中线性基因组序列不同的区域。将显示联系图,以将参考3D结构与SV更改的结构进行比较。我们认为,3D-GNOME 2.0是一个独特的在线工具,可用于建模和分析SV跨人群诱导的人类基因组构象变化。可以从访问它。

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