Articles with "structuralvariantannotation" as a keyword



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

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Published in 2022 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btac042

Abstract: Abstract 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… read more here.

Keywords: caller agnostic; ecosystem; bioconductor; structural variant ... See more keywords