Human genomics

Subscribe

One of the real powers of this technology is not just being able to detect DNA methylation, but also to directly read out DNA hydroxymethylation

Jonathan Mill, University of Exeter Medical School, UK

  • Icon displaying a graphic of humans
    Use one platform to generate ultra-rich data for all types of human variation — genomic, epigenomic, and transcriptomic
  • Blue icon showing scale from low to high output
    Scale your sequencing to suit your throughput needs with a range of flexible devices that do not require sample batching
  • Icon displaying a graphic of any length nanopore reads
    Generate reads of unrestricted length for the complete resolution of challenging regions
Intro

Generate unprecedented insights for human genomics research

With real-time, multiomic nanopore sequencing, you can discover previously hidden human genomic, epigenomic, and transcriptomic variation — from the population level down to the single-cell level.

Fully characterise challenging regions that cannot be resolved with legacy short-read sequencing technologies. Detect single nucleotide variants (SNVs) and short tandem repeats (STRs), generate highly contiguous genomes by spanning repeat regions and structural variants (SVs), interrogate full-length RNA transcript isoforms, and identify DNA and RNA base modifications, such as methylation, as standard.

With nanopore technology, there is no limit to read length (current record >4 Mb), allowing you to reveal critical insights for human genomics research — from developmental biology to common complex diseases.

Technology comparison

Oxford Nanopore sequencing

Legacy short-read sequencing

Any read length (20 bp to >4 Mb)

Short read length (<300 bp)

  • 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)
  • Transcript analysis is limited to gene-level expression data
  • 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