TADeus2：一个通过对破坏 3D 染色质结构的结构变异进行致病性评估，从而辅助临床诊断的网络服务器。
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure.
机构信息
Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw, 2 Banacha street, 02-097 Warsaw, Poland.
Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France.
出版信息
Nucleic Acids Res. 2022 Jul 5;50(W1):W744-W752. doi: 10.1093/nar/gkac318.
In recent years great progress has been made in identification of structural variants (SV) in the human genome. However, the interpretation of SVs, especially located in non-coding DNA, remains challenging. One of the reasons stems in the lack of tools exclusively designed for clinical SVs evaluation acknowledging the 3D chromatin architecture. Therefore, we present TADeus2 a web server dedicated for a quick investigation of chromatin conformation changes, providing a visual framework for the interpretation of SVs affecting topologically associating domains (TADs). This tool provides a convenient visual inspection of SVs, both in a continuous genome view as well as from a rearrangement's breakpoint perspective. Additionally, TADeus2 allows the user to assess the influence of analyzed SVs within flaking coding/non-coding regions based on the Hi-C matrix. Importantly, the SVs pathogenicity is quantified and ranked using TADA, ClassifyCNV tools and sampling-based P-value. TADeus2 is publicly available at https://tadeus2.mimuw.edu.pl.
近年来，在人类基因组中鉴定结构变异（SV）方面取得了重大进展。然而，SV 的解释，特别是位于非编码 DNA 中的 SV 的解释仍然具有挑战性。原因之一在于缺乏专门设计用于临床 SV 评估的工具，这些工具承认 3D 染色质结构。因此，我们提出了 TADeus2，这是一个专门用于快速研究染色质构象变化的网络服务器，为解释影响拓扑关联域（TAD）的 SV 提供了一个可视化框架。该工具提供了对 SV 的便捷可视化检查，既可以在连续的基因组视图中进行，也可以从重排的断点角度进行。此外，TADeus2 允许用户根据 Hi-C 矩阵评估分析的 SV 对剥落编码/非编码区域的影响。重要的是，使用 TADA、ClassifyCNV 工具和基于抽样的 P 值对 SV 的致病性进行量化和排序。TADeus2 可在 https://tadeus2.mimuw.edu.pl 上公开获得。
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