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Human genomics

Fully characterise human genetic variation with real-time nanopore sequencing technology. Generate highly contiguous genomes or interrogate targeted regions and full-length RNA transcripts. With nanopore technology, there is no limit to read length (current record >2 Mb), enabling complete resolution of challenging regions, uncovering previously hidden variation.

Plus, identify base modifications as standard, with amplification-free native DNA or RNA sequencing.

Telomere-to-telomere assembly of a complete human X chromosome

It’s time to finish the human genomeKaren Miga, UC Santa Cruz, US

Nanopore sequencing

Short-read technology

Read length equal to fragment length

  • Resolve complex genomic regions
  • Assemble high-quality genomes, with fewer gaps
  • Analyse haplotypes and phasing
  • Fully characterise transcript isoforms, splice variants, and fusions

Read length typically 50-300 bp

Short reads do not span challenging genomic regions (e.g. repeats and structural variants) or full-length RNA transcripts, resulting in fragmented assemblies and ambiguous transcript isoform data.

Direct, amplification-free protocols

  • Detect base modifications as standard
  • Eliminate amplification bias

Amplification required

Amplification can introduce bias, which reduces uniformity of coverage, and removes base modifications, necessitating additional sample prep, sequencing runs, and expense.

Real-time data streaming

  • Stop sequencing when sufficient data generated — wash and reuse flow cell
  • Immediate access to results
  • Perform target enrichment without wet-lab prep using adaptive sampling

Fixed run time with bulk data delivery

Increased time to result and inability to identify workflow errors until it’s too late.

Flexible and on demand

  • Sequence what you need when you need it
  • Scalable devices to suit your needs
  • Flexible throughput with modular GridION and PromethION
  • No sample batching required

Limited flexibility

Sample batching may be required for optimal efficiency, potentially delaying results.

White paper

Advancing human genetics research with nanopore sequencing

From closing genome gaps to characterising full-length RNA transcripts, this White paper describes how real-time, on-demand nanopore sequencing technology is being used to address the limitations of traditional short-read sequencing technologies to deliver novel biological insights. Specific case studies reveal how researchers are applying the benefits of nanopore technology to a variety of sequencing techniques, including whole genome, targeted, and RNA sequencing.

Get more human genomics content, including getting started guides, workflows, and videos, in our Resource centre.

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Case study

Accessing the inaccessible human genome with long reads

The human genome contains 36,794 ‘dark’ regions that are intractable to assembly and alignment using traditional short-read sequencing technology. Discover how, Ebbert et al applied long nanopore sequencing reads to resolve these regions.

‘Oxford Nanopore Technologies outperformed other long-read technologies, resolving 90.4% of dark CDS [coding sequence] regions’

From genome assembly to gene expression analysis, whatever your research interests, get comprehensive information in our Investigations pages.

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Scalable sequencing for human genomics

From portable, yet powerful Flongle and MinION devices to the high-throughput benchtop GridION and PromethION platforms — scale your sequencing to match your specific research requirements.

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Human genetics device chart Gigabases in 48 hours (log10)

*Flongle is a flow cell adapter for MinION and GridION, designed for rapid and cost-effective analysis of smaller tests and samples.
Based on current, internal flow cell performance. Theoretical performance of up to 7.5 Tb (P24) or 15 Tb (P48).
Devices may be run for longer. 48 hours used for comparison purposes only.

Recommended for Genome Assembly

PromethION seqeuncing device

PromethION 48

Combining up to 48 independently addressable, high-capacity flow cells with powerful, integrated compute, PromethION 48 delivers flexible, on-demand access to terrabases of sequencing data — ideal for high-throughput human genome assembly and population genomics.

PromethION seqeuncing device

PromethION P24

Flexible, population-scale sequencing using up to 24 independent, high-capacity flow cells — complete genomic and transcriptomic characterisation of large sample numbers.

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GridION seqeuncing device

GridION

From genome assembly to gene expression, run multiple experiments on-demand using 5 independent MinION flow cells.

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MinION seqeuncing device

MinION

Access the benefits of nanopore technology from just $1,000 — suitable for targeted sequencing and gene expression studies.

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MinION Mk1C seqeuncing device

MinION Mk1C

Integrated sequencing and analysis in a powerful handheld device — suitable for targeted sequencing and gene expression studies.

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Flongle Flow cell adapter

Flongle

Adapting MinION and GridION for smaller, routine tests and analyses. Low plex targeted sequencing, RNA isoform analysis, and quality control applications.

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VolTRAX Automatic library preparation device

VolTRAX

Automated sample extraction and library preparation.

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