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

Summary: 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 sequen...

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Bibliographic Details

Published in:	iScience
Main Authors:	Javier Cuenca-Guardiola, Belén de la Morena-Barrio, Esther Navarro-Manzano, Jonathan Stevens, Willem H. Ouwehand, Nicholas S. Gleadall, Javier Corral, Jesualdo Tomás Fernández-Breis
Format:	Article
Language:	English
Published:	Elsevier 2023-11-01
Subjects:	Genomics Human Genetics Methodology in biological sciences Sequence analysis
Online Access:	http://www.sciencedirect.com/science/article/pii/S2589004223022915