Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome.

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Title: Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome.
Authors: Silva, Catarina1,2 (AUTHOR) catarina.silva@insa.min-saude.pt, Ferrão, José1 (AUTHOR) jose.ferrao@insa.min-saude.pt, Marques, Bárbara3 (AUTHOR) barbara.marques@insa.min-saude.pt, Pedro, Sónia3 (AUTHOR) sonia.pedro@insa.min-saude.pt, Correia, Hildeberto3 (AUTHOR) hildeberto.correia@insa.min-saude.pt, Valente, Ana4 (AUTHOR) ana.valente@insa.min-saude.pt, Rodrigues, António Sebastião2 (AUTHOR) sebastiao.rodrigues@nms.unl.pt, Vieira, Luís1,2 (AUTHOR) luis.vieira@insa.min-saude.pt
Source: Molecular Cytogenetics (17558166). 7/23/2025, Vol. 18 Issue 1, p1-15. 15p.
Database: Academic Search Ultimate
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ISSN:17558166
DOI:10.1186/s13039-025-00721-8