Whole-genome sequencing

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[ultra-long nanopore sequencing reads] were crucial to complete the human genome, enabling the resolution of repetitive regions that could not be resolved with other technologies

Espinosa, E. et al. Genomics (2024)

  • Single comprehensive assay icon
    Resolve structural variants, repeats, and base modifications — and phase haplotypes — in a single, comprehensive assay
  • Icon displaying a graphic of any length nanopore reads
    Generate reference-quality genome assemblies, including telomere-to-telomere
  • Real-time icon blue
    Enhance clinical research with end-to-end nanopore sequencing workflows
Intro

Get comprehensive whole-genome analysis on a single platform

Whole-genome sequencing aims to provide complete analysis of an organism’s genome, but legacy short-read sequencing technologies are known to miss many important genomic regions and variants — even in the exome. Nanopore sequencing, with its capacity to produce ultra-long reads (exceeding 4 Mb), can span complex structural variants (SVs) and repeat regions that legacy technologies cannot access, while the facility to directly sequence native DNA (and RNA), without amplification, further enables simultaneous detection of epigenetic modifications alongside the nucleotide sequence to deliver deeper genomic insights.

Long_Read_DNA_Sequencing

Technology comparison

Oxford Nanopore sequencing

Legacy short-read sequencing

Any read length (20 bp to >4 Mb)

Short read length (<300 bp)

  • Generate complete, high-quality genomes with fewer contigs and simplify de novo assembly
  • Resolve genomic regions inaccessible to short reads, including complex structural variants (SVs) and repeats
  • Analyse long-range haplotypes, accurately phase single nucleotide variants (SNVs) and base modifications, and identify parent-of-origin effects
  • Resolve mobile genetic elements — including plasmids and transposons — to generate critical genomic insights
  • Assembly contiguity is reduced and complex computational analyses are required to infer results
  • Complex genomic regions such as SVs and repeat elements typically cannot be sequenced in single reads (e.g. transposons, gene duplications, and prophage sequences)
  • Important genetic information is missed

Direct sequencing of native DNA/RNA

Amplification required

  • Eliminate amplification- and GC-bias, along with read length limitations, and access genomic regions that are difficult to amplify
  • Detect epigenetic modifications, such as methylation, as standard — no additional, time-consuming sample prep required
  • Create cost-effective, amplification-free, targeted panels with adaptive sampling to detect SVs, repeats, SNVs, and methylation in a single assay
  • Amplification is often required and can introduce bias
  • Base modifications are removed, necessitating additional sample prep, sequencing runs, and expense
  • Uniformity of coverage is reduced, resulting in assembly gaps

Real-time data streaming

Fixed run time with bulk data delivery

  • Analyse data as it is generated for immediate access to actionable results
  • Stop sequencing when sufficient data is obtained — wash and reuse flow cell
  • Combine real-time data streaming with intuitive, real-time EPI2ME data analysis workflows for deeper insights
  • Time to result is increased
  • Workflow errors cannot be identified until it is too late
  • Additional complexities of handling large volumes of bulk data

Accessible and affordable sequencing

Constrained to centralised labs

  • Sequence on demand with flexible end-to-end workflows that suit your throughput needs
  • Sequence at sample source, even in the most extreme or remote environments, with the portable MinION device — minimise potential sample degradation caused by storage and shipping
  • Scale up with modular GridION and PromethION devices — suitable for high-output, high-throughput sequencing to generate ultra-rich data
  • Perform cost-effective targeted analyses with single-use Flongle Flow Cells
  • Sequence as and when needed using low-cost, independently addressable flow cells — no sample batching needed
  • Use sample barcodes to multiplex samples on a single flow cell
  • Bulky, expensive devices that require substantial site infrastructure — use is restricted to well-resourced, centralised locations, limiting global accessibility
  • High sample batching is required for optimal efficiency, delaying time to results

Streamlined, automatable workflows

Laborious workflows

  • Lengthy sample prep is required
  • Long sequencing run times
  • Workflow efficiency is reduced, and time to result is increased