Enhancing nanopore adaptive sampling for PromethION using readfish at scale

  1. Matthew Loose1
  1. 1School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, United Kingdom;
  2. 2Deepseq, School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, United Kingdom
  1. 3 These authors contributed equally to this work.

  • Corresponding author: matt.loose{at}nottingham.ac.uk
  • Abstract

    A unique feature of Oxford Nanopore Technologies sequencers, adaptive sampling, allows precise DNA molecule selection from sequencing libraries. Here, we present enhancements to our tool, readfish, enabling all features for the industrial scale PromethION sequencer, including standard and “barcode-aware” adaptive sampling. We demonstrate effective coverage enrichment and assessment of multiple human genomes for copy number and structural variation on a single PromethION flow cell.

    Footnotes

    • [Supplemental material is available for this article.]

    • Article published online before print. Article, supplemental material, and publication date are at https://www.genome.org/cgi/doi/10.1101/gr.279329.124.

    • Freely available online through the Genome Research Open Access option.

    • Received March 14, 2024.
    • Accepted January 15, 2025.

    This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

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