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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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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 |