Population genomics
Getting started guides
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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.
Most viewed
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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.
Workflow overviews
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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.
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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.
Featured resources
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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
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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
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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
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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
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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
Secuenciación de ADN por ligación 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.
cDNA-PCR Sequencing V14 (SQK-PCS114)
cDNA-PCR Sequencing V14 (SQK-PCS114)
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
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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
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A 3’ UTR deletion is a leading candidate causal variant at the TMEM106B locus reducing risk for FTLD-TDP
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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.
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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
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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
