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.
The potential of ultrarapid nanopore genome sequencing for critical care medicine
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)
Oxford Nanopore sequencing
Traditional short-read technologies
Unrestricted read length (>4 Mb achieved)
- Resolve genomic regions inaccessible to short reads, including complex structural variants (SVs) and repeats
- Assemble high-quality genomes, with fewer gaps
- Analyse long-range haplotypes and phasing
- Fully characterise transcript isoforms, splice variants, and fusions — up to single-cell resolution
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.
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.
Advancing targeted haplotyping in pharmacogenomics using adaptive sampling
Precise profiling of patients' genomes, including poorly understood pharmacogenes, is a critical need in pharmacogenomics (PGx). See how researchers at Ghent University, Belgium, 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
From genome assembly to single-cell sequencing, whatever your research interests, get comprehensive information in our Investigations pages.
Population-scale nanopore sequencing to further understand the genetics of Alzheimer's disease and related dementias
Long nanopore sequencing reads have the power to produce high disease haplotype resolution and methylation call accuracy. 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
Capturing global genomic diversity in the human pangenome with long nanopore reads
Utilising highly accurate, long nanopore sequencing reads that can span large structural variants end-to-end, the Human Pangenome Reference Consortium (HPRC) recently published the first draft of a new graph-based pangenome reference. Find out how Liao et al. used the PromethION device to sequence 47 individuals to generate phased diploid assemblies, as well as how nanopore reads were used to further enhance existing short-read datasets.
highly accurate haplotype-resolved assemblies enabled us to access previously inaccessible regions, highlighting new forms of genetic variation and providing new insights into mutational processes such as interlocus gene conversion
Liao, WW. et al. Nature 617, 312–324 (2023)
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.
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.
With 48 independently addressable, high-yield flow cells and powerful, integrated compute, PromethION 48 delivers highly accurate genome assemblies at population scale.
Flexible, population-scale sequencing using up to 24 independent, high-capacity flow cells — complete genomic and transcriptomic characterisation of large sample numbers.
From genome assembly to gene expression, run multiple experiments on-demand using up to five independent MinION Flow Cells.
Access the benefits of nanopore technology from just $1,000 — suitable for targeted sequencing and gene expression studies.
Integrated sequencing and analysis in a powerful handheld device — suitable for targeted sequencing and gene expression studies.
Adapting MinION and GridION for smaller, routine tests and analyses; ideal for low-plex targeted sequencing, RNA isoform analysis, and quality control applications.
Subscribe
Get in touch
If you have any questions about our products or services, chat directly with a member of our sales team.
To book a call with one of our sales team, please click below.