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Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing

Repetitive sequences represent about 45% of the human genome. Some are transposable elements (TEs) with the ability to change their position in the genome, creating genetic variability both as insertions or deletions, with potential pathogenic consequences. We used long-read nanopore sequencing to i...

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Detalles Bibliográficos
Autores principales: Cuenca-Guardiola, Javier, Morena-Barrio, Belén de la, Navarro-Manzano, Esther, Stevens, Jonathan, Ouwehand, Willem H., Gleadall, Nicholas S., Corral, Javier, Fernández-Breis, Jesualdo Tomás
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638045/
https://www.ncbi.nlm.nih.gov/pubmed/37953943
http://dx.doi.org/10.1016/j.isci.2023.108214

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