TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure. Issue Volume 50:Issue W1(2022) (7th May 2022)

• Record Type: Journal Article
• Authors: Poszewiecka, Barbara; Pienkowski, Victor Murcia; Nowosad, Karol; Robin, Jérôme D; Gogolewski, Krzysztof; Gambin, Anna
• Is Part Of: Nucleic acids research. Volume 50:Issue W1(2022)
• Page Start: W744
• Page End: W752
• Publication Date: 2022-05-07
• Subjects: Nucleic acids -- Periodicals; Molecular biology -- Periodicals; 572.805
• DOI: 10.1093/nar/gkac318
• Languages: English
• ISSNs: 0305-1048

Abstract

Abstract: 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 . Graphical Abstract: