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Clinical research

Getting started guides

Preview image for the bulk transcriptomics getting started guideGetting started guide

A guide to transcriptomics with Oxford Nanopore

This guide introduces cDNA and direct RNA Oxford Nanopore sequencing, for ultra-rich transcriptomic data without compromise.
Two-page image of the targeted sequencing getting started guideGetting started guide

A guide to targeted sequencing with Oxford Nanopore

This guide provides an introduction to performing targeted nanopore sequencing.
Two-page overview of the human genomics getting started guideGetting started guide

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.
Two-page image of the methylation getting started guideGetting started guide

A guide to investigating methylation in the human genome

This guide provides an introduction to the direct sequencing of DNA methylation in human genomes.
Image of the single-cell getting started guide cover and first pageGetting started guide

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

Flyer: Hereditary Cancer Panel — 2 pagesBrochure

Hereditary Cancer Panel: targeted sequencing via adaptive sampling

In this flyer, discover how to utilise the Oxford Nanopore Hereditary Cancer Panel to investigate 258 key genes associated with hereditary cancer risk.
Preview of the methylation flyerBrochure

Go with the gold standard in methylation sequencing

In this flyer, find out how Oxford Nanopore provides gold-standard methylation sequencing and comprehensive variant calling in a single run — without chemical conversion.
Multiomics two-page spreadBrochure

Multiomic nanopore sequencing: revolutionising human disease research

Find out how multiomic nanopore sequencing can accelerate your disease research using a single platform.
Preview of the cDNA sequencing application noteApplication note

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.
PromethION 24 flyer cover imageBrochure

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.

Workflow overviews

Image showing a preview of the PGx with adaptive sampling workflowWorkflow overview

Real-time enrichment of a comprehensive pharmacogenomic panel with Oxford Nanopore sequencing

This end-to-end workflow introduces how to enrich a comprehensive panel of PGx targets with real-time targeted Oxford Nanopore sequencing.
Workflow: human variant calling — 2 pagesWorkflow overview

Comprehensive human genomic variant and methylation analysis with long Oxford Nanopore reads

This end-to-end workflow provides a scalable method to identify previously hidden and potentially pathogenic variants.
Two-page image of the Hereditary Cancer Panel workflowWorkflow overview

Comprehensive characterisation of cancer predisposition genes using the Hereditary Cancer Panel

Discover the Hereditary Cancer Panel workflow and streamline your precision oncology research.
A document from Oxford Nanopore Technologies detailing workflow for PCR-free, direct RNA sequencing, featuring diagrams, text, and lab tools.Workflow overview

Detecting isoforms and 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.
Preview of the NO-MISS workflow overviewWorkflow overview

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.

Adela_Alcolea-Medina_and_Luke_Blagdon SnellEvent video

Embedding clinical metagenomics into NHS diagnostic pathways | LC26

Clinical metagenomics is a rapidly advancing field in infectious disease diagnostics, using next-generation sequencing to identify pathogens directly from clinical samples without prior assumptions. In this presentation, Dr Adela Alcolea-Medina will describe the development, validation, and national
Clinical research white paper coverWhite paper

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.
Real-time targeted sequencingEvent video

How do I perform real-time targeted Oxford Nanopore sequencing?

What if targeted sequencing took place during sequencing itself, without the need for special library prep, PCR, or probes? In this demo, discover Adaptive Sampling: a unique, real-time targeted enrichment/depletion method that achieves just that.
Visualisation of an RNA strand with glowing orange sections in the backgroundCase study

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.
sCase study

Mapping RNA modifications in the human brain with full-length transcript sequencing

A single gene can produce multiple RNA isoforms through complex gene regulation mechanisms, such as alternative splicing and post-transcriptional modifications. This creates a large transcriptional diversity by generating multiple isoforms, as exhibited in the human brain, facilitating the regulatio

Protocols

native-barcoding-kit 3Workflow

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

wf-single-cell

This workflow extracts cell barcodes and UMIs from 10x-generated single cell libraries. It was initially created as a Nextflow port of Sockeye.

wf-somatic-variation

This workflow calls variants from the alignment files of a paired tumor/normal sample.

wf-clone-validation

Among other uses this workflow could determine the success of a molecular cloning experiment and determine whether one DNA sequence has been correctly inserted into another as an experimentalist was expecting.

wf-aav-qc

This workflow takes reads sequenced from adeno-associated virus (rAAV) vector preps and does some basic quality control checks.

Latest research

Graphical image of a DNA molecule passing through a nanopore, generating a characteristic and measurable disruption to the electrical signalPublication

Nanopore sequencing combined with Adaptive Sampling and NanoExpansion enables accurate characterisation of repeat expansion disorders

Authors: Luca Morandi, Francesco Casadei, Sara De Fanti, Luigi Bonan, Francesco Ravaioli, Flavia Palombo, Alessia Fiorentino, Silvia de Pasqua, Veria Vacchiano, Patrizia Avoni, Giovanni Rizzo, Sabina Capellari, Edoardo Ruggeri, Vincenzo Donadio, Gastone Castellani, Maria Giulia Bacali
Oxford Nanopore methylationWebinar

Richer insights with adaptive sampling: targeted panels without probes for cancer predisposition, tumor profiling and beyond

Learn about Oxford Nanopore's off-the-shelf solutions for creating simple, rapid custom panels providing data-rich scalable insights into cancer biology.
Pamela GanResearch presentation

Targeted adaptive sampling for pharmacogenomics and genome-wide variant analysis | LC 25

Dr Pamela Gan is the Bioinformatics Team Lead at NalaGenetics, whose current primary research focus is developing bioinformatic pipelines and applications for diagnostics and personalized medicine. She holds a PhD from the Australian National University and has prior experience
Sebastian LunkeResearch presentation

Long-read sequencing and adaptive sampling solve complex diagnostic conundrums | LC 25

Prof. Sebastian Lunke is the Head of Division of Genetics and Genomics at the Victorian Clinical Genetics Services. His team oversees the development and delivery of clinically accredited genetics and genomics laboratories in Australia, with a strong focus on translating...
Oxford Nanopore for rare disease researchWebinar

Adaptive sampling explained: the future of flexible target enrichment

Join us for a deep dive into adaptive sampling, a unique software-based target enrichment method from Oxford Nanopore Technologies.

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