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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Detalles Bibliográficos
Autores principales: Cuenca-Guardiola, Javier, de la Morena-Barrio, Belén, García, Juan L., Sanchis-Juan, Alba, Corral, Javier, Fernández-Breis, Jesualdo T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403694/
https://www.ncbi.nlm.nih.gov/pubmed/36323370
http://dx.doi.org/10.1016/j.jare.2022.10.012

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