Clinical research
Getting started guides
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A guide to transcriptomics with Oxford Nanopore
This guide introduces cDNA and direct RNA Oxford Nanopore sequencing, for ultra-rich transcriptomic data without compromise.
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A guide to targeted sequencing with Oxford Nanopore
This guide provides an introduction to performing targeted nanopore sequencing.
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A guide to human genomics with Oxford Nanopore
This guide introduces how to sequence human genomes with Oxford Nanopore, from the construction of new, highly complete reference assemblies to the comprehensive identification of variants.
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A guide to investigating methylation in the human genome
This guide provides an introduction to the direct sequencing of DNA methylation in human genomes.
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A guide to single-cell transcriptomics with Oxford Nanopore
This guide introduces the single-cell RNA nanopore sequencing workflow, for ultra-rich data without compromise.
Most viewed
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Multiomic nanopore sequencing: revolutionising human disease research
Find out how multiomic nanopore sequencing can accelerate your disease research using a single platform.
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Long cDNA sequencing reads enable transcriptome analysis at isoform resolution
In this application note, we evaluated the updated Oxford Nanopore cDNA-PCR sequencing protocol updated protocol and compared its performance with that of the previous version of the protocol, Illumina short-read RNA-seq, and Pacific Biosciences Kinnex.
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PromethION 24: sequencing to the power of 24
Multiply your insights with PromethION 24, the production-scale nanopore sequencer that puts you in control of up to 24 high-output flow cells. Discover more.
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PromethION 2 Integrated: small box, big picture
Explore the PromethION 2 Integrated and bring high-output Oxford Nanopore sequencing to your lab. Run up to two independent flow cells with onboard compute for real-time insights. Discover more.
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Pharmacogenomic Oxford Nanopore sequencing of the Twist Alliance Long-Read PGx Panel
Discover how the Oxford Nanopore and Twist Bioscience pharmacogenomic research workflow delivers PGx sequencing without compromise.
Workflow overviews
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Nanopore-only microbial isolate sequencing solution (NO-MISS): flexible, rapid bacterial and fungal isolate whole-genome sequencing
This end-to-end workflow provides a rapid solution for whole-genome Oxford Nanopore sequencing of bacterial and fungal isolates.
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Comprehensive characterisation of cancer predisposition genes using the Hereditary Cancer Panel
Discover the Hereditary Cancer Panel workflow and streamline your precision oncology research.
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Detecting isoforms and RNA modifications with PCR-free, direct RNA nanopore sequencing
This end-to-end workflow provides a simple method to characterise RNA modifications from a human blood research sample using direct RNA sequencing.
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Obtaining full-length isoforms from single cells with Oxford Nanopore sequencing
This end-to-end workflow provides a simple solution for single-cell transcriptome analysis from 10x Genomics cDNA with library preparation in approximately three hours.
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Rapid identification of pathogenic variants and methylation with whole-genome Oxford Nanopore sequencing
This end-to-end workflow introduces how to perform rapid whole-genome human variant and methylation calling from a blood research sample using high-output DNA sequencing on PromethION 24.
Featured resources
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New approaches for human and clinical research
Explore the advantages of Oxford Nanopore sequencing to detect genomic and epigenomic variants in human and clinical research.
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Delivering the future of genomic pathogen surveillance with Oxford Nanopore sequencing
Achieve comprehensive, affordable, and real-time analysis of human and animal pathogens with nanopore sequencing.
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Addressing the challenges of metagenomics with Oxford Nanopore sequencing
Explore how reads with unrestricted length are revealing unprecedented insight into microbial communities.
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Large-cohort cDNA sequencing advances multiomic insights into neurodegenerative disease
In this case study, discover how Kimberley Billingsley and her colleagues at the National Institutes of Health are using Oxford Nanopore large-cohort cDNA sequencing to research the human brain transcriptome, enhancing understanding of the drivers of neurodegenerative diseases.
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From speed to scale: how do I choose the right human whole-genome sequencing workflow for my experiment?
In this masterclass, find the right human whole-genome sequencing workflow to meet your experimental goals. We’ll cover whole-genome analysis in just 24 hours through to scaling sequencing for large cohort research. In this masterclass, discover: • How Oxford Nanopore sequencing is advancing human g
Protocols
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Pharmacogenomic (PGx) sequencing workflow with adaptive sampling (blood, cells, saliva)
This protocol provides an end-to-end workflow for the analysis of pharmacogenomic (PGx) genes using adaptive sampling, and the Oxford Nanopore platform.
Adeno-associated virus (AAV) sequencing from recombinant adeno-associated viral (rAAV) vectors using SQK-NBD114.24
This document describes the sequencing of adeno-associated viral (AAV) vectors.
For Research Use Only
Analysis workflows
Latest research
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Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
Publication: Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
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Third-generation nanopore sequencing for post-transplant chimerism monitoring
Publication: Third-generation nanopore sequencing for post-transplant chimerism monitoring
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Addressing the global diagnostics gap for childhood leukaemias: a global, multisite type 2 hybrid validation study of nanopore-based Adaptive Sampling whole-genome sequencing
Publication: Addressing the global diagnostics gap for childhood leukaemias: a global, multisite type 2 hybrid validation study of nanopore-based Adaptive Sampling whole-genome sequencing
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Performance evaluation of a PCR/nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome
Publication: Performance evaluation of a PCR/nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome
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Whole-genome long-read sequencing for rapid comprehensive molecular diagnostics of brain tumours
Publication: Whole-genome long-read sequencing for rapid comprehensive molecular diagnostics of brain tumours
