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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:
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