Human genomics
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Unlock deeper insights in human genomics
Sequencing has transformed our understanding of human health and disease. Now, Oxford Nanopore sequencing lets you go further — uncovering human genomic, epigenomic, and transcriptomic variation that remains difficult to resolve with legacy short-read technologies.
This multiomic data allows you to connect genetic variation with gene regulation and expression to gain a more complete view of human biology and disease.
Why nanopore sequencing?
Any read length — from short to ultra-long (20 bp to >4 Mb)
Span repetitive and challenging genomic regions, resolve complex SVs, generate highly contiguous genome assemblies, and capture full-length transcripts.
Comprehensive variant detection and phasing
Accurately characterise and phase SNVs, SVs, STRs, and DNA methylation in one go for a richer view of human genomic variation.
Multiomic insights
Characterise genetic variation alongside DNA methylation and interrogate full-length transcript isoforms and RNA base modifications.
Streamlined, end-to-end workflows
Easily go from sample to answer with best-practice workflows for comprehensive human variant detection and analysis.
Scale to your needs
Explore human variation from individual samples and single cells up to large population-scale studies.
Customer spotlight
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Advancing multiomic insights into neurodegenerative disease
‘we've been able to identify thousands of novel transcripts that we would have missed with short-read sequencing’
Discover how Kimberley Billingsley and her team at the NIH Center for Alzheimer’s and Related Dementias are combining whole-genome, methylation, and isoform-level transcriptomic data from DNA and cDNA nanopore sequencing to unlock new insights into neurodegenerative disease.
End-to-end workflows
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Comprehensive human genomic variant and methylation analysis with long Oxford Nanopore reads
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Detecting isoforms and modifications with PCR-free, direct RNA nanopore sequencing
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Characterising genomic and epigenomic variation between tumour-normal research samples using long nanopore sequencing reads
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Obtaining full-length isoforms from single cells with Oxford Nanopore sequencing
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Rapid identification of pathogenic variants and methylation with whole-genome Oxford Nanopore sequencing
Featured resources
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A guide to human genomics with Oxford Nanopore
This getting started guide introduces how to sequence human genomes with Oxford Nanopore, from constructing new, highly complete reference assemblies to comprehensive variant identification.
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New approaches for human and clinical research
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A guide to transcriptomics with Oxford Nanopore
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Unlocking RNA biology with full-length reads
Highlighted application
Pharmacogenomics (PGx) with Oxford Nanopore sequencing
Many pharmacogenes are challenging to characterise using conventional array and legacy sequencing technologies due to pseudogene homology, complex structural variation, and the need for haplotype resolution.
Oxford Nanopore sequencing overcomes these limitations, allowing you to comprehensively characterise complex pharmacogenomic variation in a single assay.
Recommended device for human genomics
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PromethION 24
Power your human genomics research with high-output nanopore sequencing. Running up to 24 independent flow cells and with powerful onboard compute, PromethION 24 delivers flexible, on-demand access to terabases of sequencing data for high-coverage human genomes, full-length transcriptomes, and population-scale studies.
Streamlined analysis solutions
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Get maximum insights from your data
Discover our comprehensive range of analysis tools — from intuitive, preconfigured workflows in EPI2ME to the latest analysis algorithms.
