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Population genomics

Getting started guides

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.


Most viewed

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 preview of the large cohorts workflow overviewWorkflow overview

Accelerating clinical research with Oxford Nanopore large cohort sequencing

This end-to-end workflow provides a scalable solution for genome-wide analysis of genomic and epigenomic variants across a large cohort of human research samples with Oxford Nanopore sequencing.
Protocol overview: interaction-free whole-genome sequencing — 2 pagesWorkflow overview

Assessing variants across the human genome with interaction-free sequencing on PromethION

Ideal for those who are new to Oxford Nanopore sequencing or wish to minimise hands-on time, this end-to-end method generates human sequencing data with a read length N50 of ~10 kb.

Choose_the_right_human_whole-genome_sequencing_workflowEvent video

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
Analyse_Oxford_Nanopore_sequencing_data_without_specialist_trainingEvent video

How do I analyse my Oxford Nanopore sequencing data without specialist training?

In this beginner-friendly masterclass, discover how to analyse your Oxford Nanopore sequencing data. Find out how basecalling works, the common file formats you’ll encounter, and how to use MinKNOW to set up and monitor your sequencing run. Then, discover how to analyse your data with EPI2ME — no pr
Which_library_prep_workflow_is_right_for_my_experimentEvent video

Which library prep workflow is right for my experiment?

Whether you’re sequencing DNA, RNA, or cDNA, a single sample or many in multiplex, there’s an Oxford Nanopore library prep kit for you. In this masterclass, discover how to choose the right one for your workflow. In this masterclass, discover: • The range of Oxford Nanopore library prep solutions av
Extract_high-quality_DNA_and_RNA_for_Oxford_Nanopore_sequencingEvent video

How do I extract high-quality DNA and RNA for my Oxford Nanopore sequencing experiment?

Great sequencing results start with high-quality DNA and RNA extraction. In this masterclass, find out how to achieve just that — from choosing the right method for you to performing size selection, fragmentation, and sample handling. In this masterclass, discover: • How to optimise extraction for y
Get_started_with_Oxford_Nanopore_sequencingEvent video

How do I get started with Oxford Nanopore sequencing?

Your Oxford Nanopore sequencing journey starts here. In this masterclass, find out how nanopore sequencing works, what to expect at each step of your workflow, and how to plan your first experiment. In this masterclass, discover: • How Oxford Nanopore sequencing technology works and its benefits for

Protocols

Ligation sequencing DNA V14 (SQK-LSK114)

This protocol describes how to carry out sequencing of a DNA sample using the Ligation Sequencing Kit V14 (SQK-LSK114). It is recommended that a Lambda control experiment is completed first to become familiar with the technology.
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cDNA-PCR Sequencing V14 (SQK-PCS114)

cDNA-PCR Sequencing V14 (SQK-PCS114)
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cDNA-PCR Sequencing V14 - Barcoding (SQK-PCB114.24)

cDNA-PCR Sequencing V14 - Barcoding (SQK-PCB114.24)

Analysis workflows

wf-human-variation

This repository contains a nextflow workflow for analysing variation in human genomic data.


Latest research

Tomek DobrzyckiWebinar

Masterclass: How to call variants and methylation across the human genome | LC25

Explore Oxford Nanopore’s ultra-rich multiomic workflows for comprehensive human variation analysis — including SNVs, structural variants, methylation, STRs, CNVs, and phasing. In this masterclass, you will learn: How to obtain multiomic data from a single sequencing run The sample-t
human face behind DNA gelPublication

A 3’ UTR deletion is a leading candidate causal variant at the TMEM106B locus reducing risk for FTLD-TDP

LC2025 Assembly PO_1249Poster

Automated single-platform telomere-to-telomere de novo genome assembly for human, plant, and animal genomes

Advances in nanopore read accuracy, as well as read correction and assembly algorithms, enable routine T2T assembly for platinum-standard references and population-scale pangenome analysis.
Poster

Determining the sensitivity of airborne eDNA data

Current literature suggests airborne eDNA can be used to survey organisms in an area up to ½ km radius effectively. Some studies cite plant eDNA on dust particles travelling vast distances with the wind, with analysis that shows dispersion areas up to 600 km. In order to inform biodiversity monit
Poster

Direct-from-Blood Microbial Sequencing Assay for Pathogen and Antibiotic Resistance Detection in Bloodstream Infections

Bloodstream infections (BSIs) are a leading cause of morbidity and mortality that require rapid identification of the infecting pathogen to guide treatment. However, nearly all available diagnostics for BSIs rely on blood culture and so are inherently slow, requiring 1-2 days for bacterial growth. A

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