Human genomics

This guide introduces Adaptive Sampling, a unique on-device, real-time targeted sequencing method, providing an enhanced whole-genome view.

This guide introduces cDNA and direct RNA Oxford Nanopore sequencing, for ultra-rich transcriptomic data without compromise.

This guide provides an introduction to performing targeted nanopore sequencing.

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.

This guide provides an introduction to the direct sequencing of DNA methylation in human genomes.

In this flyer, discover Mahi-mahi: an analysis tool powered by Oxford Nanopore reads that captures and phases repeat expansion lengths, motifs, sequence interruptions, and methylation in a single assay.

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.

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.

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.

Discover how the Oxford Nanopore rapid whole-genome sequencing workflow is delivering fast, actionable results in 24 hours from sample collection.

This end-to-end workflow introduces how to enrich a comprehensive panel of PGx targets with real-time targeted Oxford Nanopore sequencing.

This end-to-end workflow provides a scalable method to identify previously hidden and potentially pathogenic variants.

This end-to-end workflow provides a simple method to characterise RNA modifications from a human blood research sample using direct RNA sequencing.

This end-to-end workflow overview provides a simple solution for detecting a wide range of tumour-specific variation in a single sequencing assay.

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.

Discover how population-scale pangenomes across Asia are improving our understanding of genetic diversity, evolution, and human health.

AbstractDiscover adaptive sampling: a simple, on-device enrichment method that requires no additional wet-lab prep and offers real-time data analysis for faster access to results.

Explore the advantages of Oxford Nanopore sequencing to detect genomic and epigenomic variants in human and clinical research.

Unlock previously hidden variation with nanopore sequencing and characterise cancer at unprecedented resolution.

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.

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.

Ultra-Long DNA Sequencing Kit V14 (SQK-ULK114)

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

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

Transcriptome analysis of cDNA and direct RNA sequencing data.

Workflow for analysing Pore-c data for chromatin conformation capture.

The ONT Cas9 sequencing kit allows the enrichment of genomic regions of interest by amplifying target regions from adapters ligated to Cas9 cleavage sites. The purpose of this workflow is to assess the effectiveness of such Cas9 enrichment, but it can be applied to other enrichment approaches.

Population-scale long-read whole-genome sequencing of UK Biobank participants using Oxford Nanopore

Evaluation of Oxford Nanopore whole-genome methylation sequencing for phenotype inference and association testing

Analysis tools for resolving challenging medically relevant genes using nanopore whole-genome and digital panel data

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...

Joy Goffena is a Research Scientist in Dr Danny Miller’s lab at the University of Washington. She specializes in applying Oxford Nanopore Technologies sequencing to advance genetic research and clinical diagnostics. Her work focuses on identifying causal genetic variants...