Truvari: refined structural variant comparison preserves allelic diversity.
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ABSTRACT:
SUBMITTER: English AC
PROVIDER: S-EPMC9793516 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
Truvari: refined structural variant comparison preserves allelic diversity.
English Adam C AC Menon Vipin K VK Gibbs Richard A RA Metcalf Ginger A GA Sedlazeck Fritz J FJ
Genome biology 20221227 1
The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same. Common approaches for comparing SVs were developed alongside technologies which produce ill-defined boundaries. As SV detection becomes more exact, algorithms to preserve this refined signal are needed. Here, we present Truvari-an SV comparison, annotation, and analysis toolkit-and demonstrate the effect of SV comparison choices by building populat ...[more]
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