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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Principais autores:	Javier Cuenca-Guardiola, Belén de la Morena-Barrio, Juan L. García, Alba Sanchis-Juan, Javier Corral, Jesualdo T. Fernández-Breis
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2023-08-01
Serija:	Journal of Advanced Research
Teme:	Nanopore Structural variant Third-generation sequencing SERPINC1
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2090123222002417
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