Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large‐scale rearrangement for the diagnosis of cancer predisposition

Abstract Background Molecular diagnosis has become highly significant for patient management in oncology. Methods Here, 30 well‐characterized clinical germline samples were studied with adaptive sampling to enrich the full sequence of 152 cancer predisposition genes. Sequencing was performed on Oxfo...

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Hauptverfasser:	Sandy Chevrier, Corentin Richard, Marie Mille, Denis Bertrand, Romain Boidot
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2025-01-01
Schriftenreihe:	Clinical and Translational Medicine
Schlagworte:	adaptive sampling germline variants large‐scale rearrangements single nucleotide variation
Online-Zugang:	https://doi.org/10.1002/ctm2.70138
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