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Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing.
iScience. 2023 Oct 14;26(11):108214. doi: 10.1016/j.isci.2023.108214. eCollection 2023 Nov 17.
iScience. 2023.
PMID: 37953943
Free PMC article.
Improvement of large copy number variant detection by whole genome nanopore sequencing.
Cuenca-Guardiola J, de la Morena-Barrio B, García JL, Sanchis-Juan A, Corral J, Fernández-Breis JT.
Cuenca-Guardiola J, et al.
J Adv Res. 2023 Aug;50:145-158. doi: 10.1016/j.jare.2022.10.012. Epub 2022 Oct 30.
J Adv Res. 2023.
PMID: 36323370
Free PMC article.
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Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.
de la Morena-Barrio B, Orlando C, Sanchis-Juan A, García JL, Padilla J, de la Morena-Barrio ME, Puruunen M, Stouffs K, Cifuentes R, Borràs N, Bravo-Pérez C, Benito R, Cuenca-Guardiola J, Vicente V, Vidal F, Hernández-Rivas JM, Ouwehand W, Jochmans K, Corral J.
de la Morena-Barrio B, et al. Among authors: cuenca guardiola j.
J Mol Diagn. 2022 May;24(5):462-475. doi: 10.1016/j.jmoldx.2022.01.009. Epub 2022 Feb 23.
J Mol Diagn. 2022.
PMID: 35218943
Free article.
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