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Improvement of large copy number variant detection by whole genome nanopore sequencing

Introduction: Whole-genome sequencing using nanopore technologies can uncover structural variants, which are DNA rearrangements larger than 50 base pairs. Nanopore technologies can also characterize their boundaries with single-base accuracy, owing to the kilobase-long reads that encompass either fu...

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Autores principales: Javier Cuenca-Guardiola, Belén de la Morena-Barrio, Juan L. García, Alba Sanchis-Juan, Javier Corral, Jesualdo T. Fernández-Breis
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2023-08-01
Colección:Journal of Advanced Research
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Acceso en línea:http://www.sciencedirect.com/science/article/pii/S2090123222002417
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