Enhancing nanopore adaptive sampling for PromethION using readfish at scale

Genome Res. 2025 Apr 14;35(4):877-885. doi: 10.1101/gr.279329.124.

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.

MeSH terms

  • DNA Copy Number Variations
  • Genome, Human
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Nanopore Sequencing* / methods
  • Nanopores*
  • Sequence Analysis, DNA* / methods