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September 12, 2025

Flexible and rapid validation of structural variation using adaptive sampling

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Authors

LFLars FeukUppsala UniversityAPAida PaivandyUppsala UniversityFLFelix LennerUppsala University

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Overview

This analysis evaluates adaptive sampling to confirm and characterize structural variants in clinical samples, highlighting its efficiency.

Key Points

  • Adaptive sampling confirmed all structural variants identified, using effective read depth and breakpoint junction analysis.
  • Sequencing yielded 14.1-18.3 Gb of data per flow cell, with mean autosomal coverage of 28.4x, demonstrating substantial data production.
  • Evaluation utilized Oxford Nanopore long-read sequencing, focusing on various structural variant types like deletions and translocations.
  • This approach offers a rapid confirmation strategy for clinically relevant genomic rearrangements, enhancing diagnostic capabilities.

Cite This Study

Feuk et al. (2025) studied this question.

synapsesocial.com/papers/68d44b3031b076d99fa54982https://doi.org/10.21203/rs.3.rs-7307341/v1
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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 sampling2026
  2. 2Improving structural variant detection and interpretation using nanopore long reads : de novo diploid assembly, population frequency annotation, and clinical applications2026
  3. 3Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery2025
  4. 4Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery2026 · 1 citations
  5. 5Abstract 2936: Nanopore adaptive sampling detects nucleotide variants and improves large scale rearrangement characterization for diagnosis of cancer predisposition2024