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February 25, 2026European Journal of Human GeneticsOpen Access

Flexible and rapid validation of structural variation using adaptive sampling

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Authors

APAida PaivandyFLFelix LennerJEJesper Eisfeldt

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Overview

Evaluation shows adaptive sampling accurately confirms genomic rearrangements in clinical samples, indicating a faster approach for variant validation.

Key Points

  • The study aims to evaluate Oxford Nanopore long-read adaptive sampling for confirming and characterizing complex genomic rearrangements.
  • Utilized Oxford Nanopore sequencing with adaptive sampling for targeted regions.
  • Analyzed samples on MinION or PromethION flow-cells.
  • Targeted 10 regions with various structural variant types.
  • Verified all 10 rearrangements with breakpoint spanning reads for nine regions.
  • Fully resolved the architecture of nine regions.
  • Sequencing produced mean autosomal on-target coverage of 28.4x.

Cite This Study

Paivandy et al. (2026) studied this question.

synapsesocial.com/papers/699e91c4f5123be5ed04f80ehttps://doi.org/10.1038/s41431-026-02039-4
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Flexible and rapid validation of structural variation using adaptive sampling2025
  2. 2Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery2026 · 1 citations
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  4. 4Improving structural variant detection and interpretation using nanopore long reads : de novo diploid assembly, population frequency annotation, and clinical applications2026
  5. 5Abstract 2936: Nanopore adaptive sampling detects nucleotide variants and improves large scale rearrangement characterization for diagnosis of cancer predisposition2024