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

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

Abstract Background Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to sequence 2 human cell lines at low depth of coverage to call copy number...

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Bibliographic Details
Main Authors: Catarina Silva, José Ferrão, Bárbara Marques, Sónia Pedro, Hildeberto Correia, Ana Valente, António Sebastião Rodrigues, Luís Vieira
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Molecular Cytogenetics
Subjects:
Third-generation sequencing
Whole genome sequencing
Nanopore Sequencing
Hybrid-SNP microarray
Structural variation
Copy number variation
Online Access:https://doi.org/10.1186/s13039-025-00721-8
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