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

Sandy Chevrier; Corentin Richard; Marie Mille; Denis Bertrand; Romain Boidot

doi:10.1002/ctm2.70138

Clinical and Translational Medicine ›› 2025, Vol. 15 ›› Issue (1) : e70138 DOI: 10.1002/ctm2.70138

RESEARCH ARTICLE

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

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Abstract

	•Adaptive sampling is suitable for the analysis of germline alterations.
	•Improves the characterization of Large Scale Rearrangement and detects SNV at a minimum coverage of 10x.
	•Allows flexibility of sequencing.

Keywords

adaptive sampling / germline variants / large-scale rearrangements / single nucleotide variation

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Sandy Chevrier,Corentin Richard,Marie Mille,Denis Bertrand,Romain Boidot. 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, 2025, 15(1): e70138 DOI:10.1002/ctm2.70138

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2025 The Author(s). Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.