Article
Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.
Clinical and translational medicine - 1 Jan 2025
Chevrier Sandy, Richard Corentin, Mille Marie, Bertrand Denis, Boidot Romain
Abstract excerpt
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 Oxford Nanopore (ONT) R10.4.1 MinION flowcells with the Q20+ chemistry. RESULTS: In our cohort, 11 samples had large-scale...
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