Applications Research areas
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.
Telomere-to-telomere assembly of a complete human X chromosome
It’s time to finish the human genome Karen Miga, UC Santa Cruz, US
Oxford Nanopore sequencing
Traditional short-read technologies
Unrestricted read length (>4 Mb achieved)
- Resolve complex and repetitive regions
- Assemble high-quality genomes, with fewer gaps
- Analyse long-range haplotypes and phasing
- Fully characterise transcript isoforms, splice variants, and fusions
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 as standard – no additional prep required
- Eliminate amplification bias and read length limitations
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
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.
Get more human genomics content, including getting started guides, workflows, and videos, in our Resource centre.
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’
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.
*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.
Flexible, population-scale sequencing using up to 24 independent, high-capacity flow cells — complete genomic and transcriptomic characterisation of large sample numbers.View product
From genome assembly to gene expression, run multiple experiments on-demand using 5 independent MinION flow cells.View product
Access the benefits of nanopore technology from just $1,000 — suitable for targeted sequencing and gene expression studies.View product
Integrated sequencing and analysis in a powerful handheld device — suitable for targeted sequencing and gene expression studies.View product
Adapting MinION and GridION for smaller, routine tests and analyses. Low plex targeted sequencing, RNA isoform analysis, and quality control applications.View product
Automated sample extraction and library preparation.View product