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 >4 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.

we present a pipeline for high-depth nanopore sequencing of a human genome in less than 2 hours...

Goenka, S.D et al. Nat. Biotechnol. 40(7), 1035–1041 (2022)

Technology comparison

Oxford Nanopore sequencing

Traditional short-read technologies

Unrestricted read length (>4 Mb achieved)

Read length typically 50–300 bp

Short reads do not typically span entire regions of interest, including 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, such as methylation, as standard — no additional prep required
  • Eliminate amplification bias and read length limitations

Amplification required

Amplification can introduce bias — reducing uniformity of coverage with the potential for coverage gaps — 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 additional 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, plus additional complexities of handling large volumes of bulk data.

Flexible and on demand

  • Sequence what you need when you need it — no sample batching required
  • Scalable devices to suit your needs — from low throughput to thousands of human genomes per year
  • Get flexible throughput with modular GridION and population scale with PromethION devices
  • 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.

View more content on getting started with nanopore sequencing for human genomics, including guides and workflows on genome assembly, variant calling and phasing, and methylation detection.

Case study

Advancing targeted haplotyping in pharmacogenomics using adaptive sampling

Precise profiling of patients' genomes, including poorly understood pharmacogenes, is a critical need in pharmacogenomics (PGx). Koen Deserranno from Ghent University, Belgium, shared at London Calling 2023, how they harnessed nanopore sequencing and adaptive sampling to target over 1,056 pharmacogenes, delivering potential new insights into haplotype-guided pharmacological treatments.

Adaptive sampling is a promising tool for further pharmacogenomics research [and] … will help us to tailor a patient’s drug regimen better

Koen Deserranno, Ghent University, Belgium

Case study

Long nanopore sequencing reads have the power to produce high disease haplotype resolution and methylation call accuracy. At London Calling 2023, discover the innovative approach Billingsley et al. developed, utilising a scalable wet lab and computational pipeline, to sequence approximately 200 human brain samples, creating a valuable long-read resource for large-scale genomics projects.

Nanopore long-read sequencing [is] … a genuine alternative to short reads for large-scale genomic projects

Kimberly Billingsley, NIH Center for Alzheimer’s and Related Dementias, USA

Get started

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.

* Theoretical max output (TMO). Assumes system is run for 72 hours (or 16 hours for Flongle) at 420 bases / second. Actual output varies according to library type, run conditions, etc. TMO noted may not be available for all applications or all chemistries.

† PromethION P2 and P2 Solo devices are currently preorder, with Early Access devices expected to ship in 2022.

Recommended for human genome sequencing

PromethION 24

The PromethION 24 device combines 24 independently addressable, high-capacity flow cells with powerful, integrated compute. The device delivers flexible, on-demand access to terabases of sequencing data – ideal for cost-effective, high-throughput sequencing of human genomes and transcriptomes.


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