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SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants

With the advent of genomic sequencing, a number of balanced and unbalanced structural variants (SVs) can be detected per individual. Mainly due to incompleteness and the scattered nature of the available annotation data of the human genome, manual interpretation of the SV’s clinical significance is...

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Detalles Bibliográficos
Autores principales: Fino, Joana, Marques, Bárbara, Dong, Zirui, David, Dezső
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671832/
https://www.ncbi.nlm.nih.gov/pubmed/34925449
http://dx.doi.org/10.3389/fgene.2021.757170