Truvari: refined structural variant comparison preserves allelic diversity

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, al...

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Detalles Bibliográficos
Autores principales: English, Adam C., Menon, Vipin K., Gibbs, Richard A., Metcalf, Ginger A., Sedlazeck, Fritz J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793516/
https://www.ncbi.nlm.nih.gov/pubmed/36575487
http://dx.doi.org/10.1186/s13059-022-02840-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793516/
https://www.ncbi.nlm.nih.gov/pubmed/36575487
http://dx.doi.org/10.1186/s13059-022-02840-6

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