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StructuralVariantAnnotation: a R/Bioconductor foundation for a caller-agnostic structural variant software ecosystem

SUMMARY: StructuralVariantAnnotation is an R/Bioconductor package that provides a framework for decoupling downstream analysis of structural variant breakpoints from upstream variant calling methods. It standardizes the representational format from BEDPE, or any of the three different notations supp...

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Detalles Bibliográficos
Autores principales:	Cameron, Daniel L, Dong, Ruining, Papenfuss, Anthony T
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Applications Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8963309/ https://www.ncbi.nlm.nih.gov/pubmed/35134827 http://dx.doi.org/10.1093/bioinformatics/btac042

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