Truvari: refined structural variant comparison preserves allelic diversity

Abstract 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...

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Главные авторы:	Adam C. English, Vipin K. Menon, Richard A. Gibbs, Ginger A. Metcalf, Fritz J. Sedlazeck
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2022-12-01
Серии:	Genome Biology
Предметы:	Structural variation SV comparison SV merging SV benchmarking SV annotation
Online-ссылка:	https://doi.org/10.1186/s13059-022-02840-6
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