TY - JOUR
T1 - TADeus2
T2 - a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure
AU - Poszewiecka, Barbara
AU - Pienkowski, Victor Murcia
AU - Nowosad, Karol
AU - Robin, Jérôme D.
AU - Gogolewski, Krzysztof
AU - Gambin, Anna
N1 - Publisher Copyright:
© 2022 The Author(s). Published by Oxford University Press on behalf of Nucleic Acids Research.
PY - 2022/7/5
Y1 - 2022/7/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85134413531&partnerID=8YFLogxK
U2 - 10.1093/nar/gkac318
DO - 10.1093/nar/gkac318
M3 - Article
C2 - 35524567
AN - SCOPUS:85134413531
SN - 0305-1048
VL - 50
SP - W744-W752
JO - Nucleic Acids Research
JF - Nucleic Acids Research
IS - W1
ER -