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TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure

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 evaluatio...

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Detalles Bibliográficos
Autores principales: Poszewiecka, Barbara, Pienkowski, Victor Murcia, Nowosad, Karol, Robin, Jérôme D, Gogolewski, Krzysztof, Gambin, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252839/
https://www.ncbi.nlm.nih.gov/pubmed/35524567
http://dx.doi.org/10.1093/nar/gkac318