Human genomics
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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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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Oxford Nanopore 24-hour whole-genome sequencing for paediatric rare disease research
Discover how the Oxford Nanopore rapid whole-genome sequencing workflow is delivering fast, actionable results in 24 hours from sample collection.
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Automation of the Oxford Nanopore Ligation Sequencing Kit XL V14 on the HAMILTON NGS STARlet generates high-quality DNA libraries for nanopore sequencing
This application note shares how automating sequencing library preparation based on the Oxford Nanopore Ligation Sequencing Kit XL V14 on the HAMILTON NGS STARlet allows for the generation of sequencing libraries from various double-stranded DNA input materials.
Workflow overviews
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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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Characterising genomic and epigenomic variation between tumour-normal research samples using long nanopore sequencing reads
This end-to-end workflow overview provides a simple solution for detecting a wide range of tumour-specific variation in a single sequencing assay.
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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.
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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.
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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Unlocking RNA biology with full-length reads
Discover how nanopore sequencing uniquely captures full-length transcripts for isoform-level transcriptome characterisation.
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Accelerating cancer research through comprehensive genomic analysis
Unlock previously hidden variation with nanopore sequencing and characterise cancer at unprecedented resolution.
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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
DNA连接法建库 V14（SQK-LSK114）
本实验指南：
- 使用基因组DNA或扩增子DNA为起始材料
- 建库用时约65分钟
- 用户可按需片段化DNA
- 无需借助PCR
- 与 R10.4.1 测序芯片兼容
仅供研究使用
DNA 超长片段测序试剂盒 V14（SQK-ULK114）
本实验指南：
- 稳定产出 N50 大于 50 kb 的超长读长
- 经过优化，以获得较高的测序产量
- 兼容 R10.4.1 测序芯片 仅供研究使用
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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GAA-FGF14 ataxia is a frequently overlooked cause of sporadic adult-onset ataxia
GAA-FGF14 ataxia is a frequently overlooked cause of sporadic adult-onset ataxia
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Genome-wide DNA methylation signatures in blood associated with paediatric obesity
Publication: Genome-wide DNA methylation signatures in blood associated with paediatric obesity
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Comprehensive resolution of challenging genomic variants with Oxford Nanopore de novo genome assemblies
Find out how to generate telomere-to-telomere genome assemblies using long and ultra-long nanopore reads for platinum-standard references.
